NM_007294.4:c.2862A>G

Variant names:

• chr17-43092669-T-C
• rs559190752
• NM_007294.4:c.2862A>G

Variant summary

Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_Strong BP6_Very_Strong BP7

The NM_007294.4(BRCA1):​c.2862A>G​(p.Leu954Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,614,126 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★★). Synonymous variant affecting the same amino acid position (i.e. L954L) has been classified as Likely benign.

• Frequency:
  • Genomes: 𝑓 0.000033 (0 hom., cov: 32)
  • Exomes 𝑓: 0.000016 (0 hom.)
• Consequence: BRCA1 NM_007294.4 synonymous
• Clinical Significance: Likely benign reviewed by expert panel B:8
• Conservation: PhyloP100: -1.33
• Publications: 2 publications found

Genes affected

BRCA1 (HGNC:1100): (BRCA1 DNA repair associated) This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

BRCA1 Gene-Disease associations (from GenCC):

• breast-ovarian cancer, familial, susceptibility to, 1

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, ClinGen, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
• Fanconi anemia, complementation group S

  Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), ClinGen, Ambry Genetics
• pancreatic cancer, susceptibility to, 4

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• hereditary breast ovarian cancer syndrome

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Fanconi anemia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Benign. The variant received -13 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BP6: Variant 17-43092669-T-C is Benign according to our data. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092669-T-C is described in CliVar as Likely_benign. Clinvar id is 184697.Status of the report is reviewed_by_expert_panel, 3 stars.
• BP7: Synonymous conserved (PhyloP=-1.34 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.2862A>G	p.Leu954Leu	synonymous_variant	Exon 10 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.2862A>G	p.Leu954Leu	synonymous_variant	Exon 10 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes AF: 0.0000329 AC: 5 AN: 152176 Hom.: 0 Cov.: 32

Gnomad AFR AF: 0.0000965

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000147

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.0000239 AC: 6 AN: 251366 AF XY: 0.0000221

Gnomad AFR exome AF: 0.000185

Gnomad AMR exome AF: 0.0000289

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.00000880

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.0000157 AC: 23 AN: 1461832 Hom.: 0 Cov.: 53 AF XY: 0.0000193 AC XY: 14 AN XY: 727212

African (AFR) AF: 0.000239 AC: 8 AN: 33480

American (AMR) AF: 0.0000447 AC: 2 AN: 44724

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26132

East Asian (EAS) AF: 0.00 AC: 0 AN: 39688

South Asian (SAS) AF: 0.0000232 AC: 2 AN: 86254

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53410

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5768

European-Non Finnish (NFE) AF: 0.00000899 AC: 10 AN: 1111982

Other (OTH) AF: 0.0000166 AC: 1 AN: 60394

GnomAD4 genome AF: 0.0000328 AC: 5 AN: 152294 Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3 AN XY: 74466

African (AFR) AF: 0.0000963 AC: 4 AN: 41552

American (AMR) AF: 0.00 AC: 0 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3472

East Asian (EAS) AF: 0.00 AC: 0 AN: 5182

South Asian (SAS) AF: 0.00 AC: 0 AN: 4826

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10626

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 294

European-Non Finnish (NFE) AF: 0.0000147 AC: 1 AN: 68030

Other (OTH) AF: 0.00 AC: 0 AN: 2114

Alfa AF: 0.0000434 Hom.: 0

Bravo AF: 0.0000378

Asia WGS AF: 0.000289 AC: 1 AN: 3478

ClinVar

Significance: Likely benign

Submissions summary: Benign:8

Revision: reviewed by expert panel

Submissions by phenotype

not provided Benign:4

Jul 09, 2018

GeneDx

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is associated with the following publications: (PMID: 16267036) -

-

Department of Pathology and Laboratory Medicine, Sinai Health System

Significance: Likely benign

Review Status: no assertion criteria provided

Collection Method: clinical testing

The BRCA1 p.Leu954Leu variant was not identified in the literature, nor was it identified in the HGMD, BIC, LOVD or COSMIC databases. The variant was identified in UMD (1X as an unclassified variant). The variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign. -

Apr 14, 2017

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Variant summary: The BRCA1 c.2862A>G (p.Leu954Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant does not affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.000033 (4/121352 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). A study on colonic cancer found the variant in a colonic adenoma sample. However, there was at least one pathogenic co-occurrence of a possible driver mutation in the APC gene (p.Arg1450X; Pathogenic/likely pathogenic in ClinVar), suggesting that this variant of interest is not likely to be involved in this oncogenesis and its presence in the adenoma sample could represent a passenger mutation (Dame_bioRxiv_2017). Another publication included the variant as part of a common haplotype and classified it as a benign polymorphism (Judkins_Cancer Res_2005). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. Taken together, this variant is classified as Likely Benign until unequivocal evidence of germline co-occurrence with other pathogenic variants, and/or functional and control evidence supportive of a benign role are obtained. -

Aug 18, 2019

Quest Diagnostics Nichols Institute San Juan Capistrano

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Benign:2

Nov 10, 2014

Ambry Genetics

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -

Apr 25, 2016

Color Diagnostics, LLC DBA Color Health

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Breast-ovarian cancer, familial, susceptibility to, 1 Benign:1

Jun 29, 2017

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

Significance: Likely benign

Review Status: reviewed by expert panel

Collection Method: curation

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). -

Hereditary breast ovarian cancer syndrome Benign:1

Jan 30, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.92
DANN	Benign	0.36
PhyloP100		-1.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs559190752; hg19: chr17-41244686;