ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3071G>C (p.Ser1024Thr) (rs757579891)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240705 SCV000265878 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Invitae RCV001202270 SCV001373378 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1024 of the BRCA1 protein (p.Ser1024Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with hereditary breast and/or ovarian cancer (PMID: 30702160). ClinVar contains an entry for this variant (Variation ID: 224431). 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: "Possibly 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.

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