rs976725810

Variant names:

• chr17-43091525-T-A
• rs976725810
• NM_007294.4:c.4006A>T

Your query was ambiguous. Multiple possible variants found:

• chr17-43091525-T-A
• chr17-43091525-T-C

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4 BP6

The NM_007294.4(BRCA1):​c.4006A>T​(p.Ser1336Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000867 in 1,613,904 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 Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1336I) has been classified as Likely benign.

• Frequency:
  • Genomes: 𝑓 0.0000066 (0 hom., cov: 32)
  • Exomes 𝑓: 0.0000089 (0 hom.)
• Consequence: BRCA1 NM_007294.4 missense
• Clinical Significance: Conflicting classifications of pathogenicity criteria provided, conflicting classifications U:1 B:4
• Conservation: PhyloP100: 2.38
• Publications: 6 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: Likely_benign. The variant received -2 ACMG points.

• BP4: Computational evidence support a benign effect (MetaRNN=0.40951273).
• BP6: Variant 17-43091525-T-A is Benign according to our data. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719. Variant chr17-43091525-T-A is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 489719.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.4006A>T	p.Ser1336Cys	missense_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.4006A>T	p.Ser1336Cys	missense_variant	Exon 10 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes AF: 0.00000657 AC: 1 AN: 152222 Hom.: 0 Cov.: 32

Gnomad AFR AF: 0.00

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

GnomAD4 exome AF: 0.00000889 AC: 13 AN: 1461682 Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3 AN XY: 727102

African (AFR) AF: 0.00 AC: 0 AN: 33464

American (AMR) AF: 0.00 AC: 0 AN: 44716

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

East Asian (EAS) AF: 0.00 AC: 0 AN: 39692

South Asian (SAS) AF: 0.00 AC: 0 AN: 86252

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53414

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5764

European-Non Finnish (NFE) AF: 0.00000989 AC: 11 AN: 1111852

Other (OTH) AF: 0.0000331 AC: 2 AN: 60396

GnomAD4 genome AF: 0.00000657 AC: 1 AN: 152222 Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0 AN XY: 74372

African (AFR) AF: 0.00 AC: 0 AN: 41448

American (AMR) AF: 0.00 AC: 0 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3470

East Asian (EAS) AF: 0.00 AC: 0 AN: 5202

South Asian (SAS) AF: 0.00 AC: 0 AN: 4838

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10624

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 316

European-Non Finnish (NFE) AF: 0.0000147 AC: 1 AN: 68036

Other (OTH) AF: 0.00 AC: 0 AN: 2092

Alfa AF: 0.0000712 Hom.: 0

Bravo AF: 0.00000378

EpiCase AF: 0.0000545

EpiControl AF: 0.00

ClinVar

Significance: Conflicting classifications of pathogenicity

Submissions summary: Uncertain:1 Benign:4

Revision: criteria provided, conflicting classifications

Submissions by phenotype

Hereditary cancer-predisposing syndrome Uncertain:1 Benign:2

Mar 23, 2023

University of Washington Department of Laboratory Medicine, University of Washington

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: curation

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). -

Aug 21, 2023

Color Diagnostics, LLC DBA Color Health

Significance: Uncertain significance

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This missense variant replaces serine with cysteine at codon 1336 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in a breast cancer case-control meta-analysis in 0/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006285). A multifactorial analysis has reported likelihood ratios for pathogenicity of 1.0331 and 0.316 based on co-occurrence with a pathogenic covariant and family history of 1.0331 and 0.316, respectively (PMID: 31131967). This variant has been identified in 1/31408 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may not be associated with disease, additional functional and clinical studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. -

May 09, 2023

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. -

not provided Benign:1

Aug 28, 2019

GeneDx

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Hereditary breast ovarian cancer syndrome Benign:1

Sep 26, 2023

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
AlphaMissense	Benign	0.11
BayesDel_addAF	Uncertain	0.16	D
BayesDel_noAF	Uncertain	-0.010
CADD	Benign	22
DANN	Uncertain	0.98
DEOGEN2	Benign	0.33	T;.;.;.
Eigen	Benign	0.13
Eigen_PC	Benign	0.14
FATHMM_MKL	Benign	0.65	D
LIST_S2	Benign	0.83	T;T;T;T
M_CAP	Uncertain	0.14	D
MetaRNN	Benign	0.41	T;T;T;T
MetaSVM	Benign	-0.78	T
MutationAssessor	Uncertain	2.6	M;M;.;.
PhyloP100		2.4
PrimateAI	Benign	0.34	T
PROVEAN	Benign	-1.2	N;N;N;N
REVEL	Uncertain	0.47
Sift	Pathogenic	0.0	D;D;D;D
Sift4G	Uncertain	0.0030	D;D;D;D
Polyphen		0.95	P;.;.;D
Vest4		0.50
MutPred		0.18		Loss of phosphorylation at S1336 (P = 0.0157);Loss of phosphorylation at S1336 (P = 0.0157);.;Loss of phosphorylation at S1336 (P = 0.0157);
MVP		0.90
MPC		0.39
ClinPred		0.95	D
GERP RS		5.1
PromoterAI		0.0016	Neutral
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7
Varity_R		0.17
gMVP		0.17
Mutation Taster		=54/46	polymorphism

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: rs976725810; hg19: chr17-41243542;