ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) (rs80357104)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582258 SCV000688544 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Invitae RCV000637560 SCV000759024 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 1722 of the BRCA1 protein (p.Ser1722Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 491098). This variant has been reported to have conflicting or insufficient data to determine the effect on BRCA1 protein function (PMID: 30209399). This variant disrupts the p.Ser1722 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20516115, 12496477, 25085752). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Ambry Genetics RCV000582258 SCV001185556 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-04 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV001077730 SCV001243707 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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