ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys)

dbSNP: rs397507276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567913 SCV000668685 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-04 criteria provided, single submitter clinical testing The p.Y600C variant (also known as c.1799A>G), located in coding exon 9 of the BRCA2 gene, results from an A to G substitution at nucleotide position 1799. The tyrosine at codon 600 is replaced by cysteine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513285 SCV002959586 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 37757). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. This missense change has been observed in individual(s) with breast cancer (PMID: 32072338). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 600 of the BRCA2 protein (p.Tyr600Cys).
University of Washington Department of Laboratory Medicine, University of Washington RCV000567913 SCV003851651 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).
Sharing Clinical Reports Project (SCRP) RCV000031338 SCV000053943 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2008-02-15 no assertion criteria provided clinical testing

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