ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6767G>A (p.Cys2256Tyr)

dbSNP: rs80358900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301337 SCV001490503 likely benign Hereditary breast ovarian cancer syndrome 2024-05-06 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003157317 SCV003847435 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Ambry Genetics RCV003157317 SCV004052565 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-26 criteria provided, single submitter clinical testing The p.C2256Y variant (also known as c.6767G>A), located in coding exon 10 of the BRCA2 gene, results from a G to A substitution at nucleotide position 6767. The cysteine at codon 2256 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113640 SCV000146927 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1997-11-13 no assertion criteria provided clinical testing

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