ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys) (rs80357194)

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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 RCV000132053 SCV000187115 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-20 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000554348 SCV000635843 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 767 of the BRCA1 protein (p.Ser767Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 91582). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000132053 SCV001348866 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077099 SCV000108896 uncertain significance Breast-ovarian cancer, familial 1 2011-11-02 no assertion criteria provided clinical testing

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