ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) (rs80357129)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047645 SCV000075658 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-30 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 645 of the BRCA1 protein (p.Ser645Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs80357129, ExAC 0.004%). This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 18273839, 19491284, 25415331, 23593081, 27062684, 30702160). This variant is also known as 2053C-A (S645Y) in the literature. ClinVar contains an entry for this variant (Variation ID: 54404). 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: "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.
Ambry Genetics RCV000129530 SCV000184306 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000129530 SCV000912045 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111735 SCV000144253 uncertain significance Breast-ovarian cancer, familial 1 1997-11-14 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496441 SCV000587169 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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