17-43106538-A-G

Variant names:

• chr17-43106538-A-G
• rs587781916
• NM_007294.4:c.135-5T>C

Variant summary

Our verdict is Likely benign. The variant received -1 ACMG points: 2P and 3B. PM2 BP4_Moderate BP6

The NM_007294.4(BRCA1):​c.135-5T>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: BRCA1 NM_007294.4 splice_region, intron
• Scores: Splicing: ADA: 0.003614
• Clinical Significance: Conflicting classifications of pathogenicity criteria provided, conflicting classifications U:1 B:6
• Conservation: PhyloP100: 0.574
• Publications: 3 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 -1 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.43).
• BP6: Variant 17-43106538-A-G is Benign according to our data. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658. Variant chr17-43106538-A-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 141658.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.135-5T>C		splice_region_variant, intron_variant	Intron 3 of 22	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.135-5T>C		splice_region_variant, intron_variant	Intron 3 of 22	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 1424966 Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0 AN XY: 710890

African (AFR) AF: 0.00 AC: 0 AN: 32592

American (AMR) AF: 0.00 AC: 0 AN: 44548

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 25872

East Asian (EAS) AF: 0.00 AC: 0 AN: 39388

South Asian (SAS) AF: 0.00 AC: 0 AN: 84704

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53286

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5332

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 1080120

Other (OTH) AF: 0.00 AC: 0 AN: 59124

GnomAD4 genome Cov.: 32

Alfa AF: 0.0000503 Hom.: 0

ClinVar

Significance: Conflicting classifications of pathogenicity

Submissions summary: Uncertain:1 Benign:6

Revision: criteria provided, conflicting classifications

Submissions by phenotype

Hereditary breast ovarian cancer syndrome Benign:3

Nov 01, 2021

Genetics Program, Instituto Nacional de Cancer

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: research

- -

Jan 14, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jan 20, 2025

Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The splice region variant NM_007294.4(BRCA1):c.135-5T>C has not been reported previously as a pathogenic variant, to our knowledge. The c.135-5T>C variant is novel (not in any individuals) in gnomAD. The c.135-5T>C variant is novel (not in any individuals) in 1kG. The c.135-5T>C variant is not predicted to disrupt the existing acceptor splice site 3bp upstream by any splice site algorithm. The c.135-5T>C variant results in a substitution of a base that is not predicted conserved by GERP++ and PhyloP. For these reasons, this variant has been classified as Likely Benign. -

Hereditary cancer-predisposing syndrome Benign:2

Oct 24, 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. -

Feb 20, 2024

Color Diagnostics, LLC DBA Color Health

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

not provided Uncertain:1

Feb 16, 2016

GeneDx

Significance: Uncertain significance

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is denoted BRCA1 c.135-5T>C or IVS3-5T>C and consists of a T>C nucleotide substitution at the -5 position of intron 3 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 254-5T>C. This variant is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.135-5T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether BRCA1 c.135-5T>C is pathogenic or benign. We consider it to be a variant of uncertain significance. -

Hereditary cancer Benign:1

Feb 27, 2025

Mendelics

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.43
CADD	Benign	11
DANN	Benign	0.87
PhyloP100		0.57

Splicing

Name	Calibrated prediction	Score	Prediction
dbscSNV1_ADA	Benign	0.0036
dbscSNV1_RF	Benign	0.034
Splicevardb		1.0
SpliceAI score (max)		0.040		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: rs587781916; hg19: chr17-41258555;