ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9205T>G (p.Cys3069Gly) (rs398122611)

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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 RCV000167063 SCV000217890 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000167063 SCV000684034 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-29 criteria provided, single submitter clinical testing
Invitae RCV000700869 SCV000829644 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 3069 of the BRCA2 protein (p.Cys3069Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91518). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Sharing Clinical Reports Project (SCRP) RCV000077035 SCV000108832 uncertain significance Breast-ovarian cancer, familial 2 2009-05-07 no assertion criteria provided clinical testing

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