ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro)

dbSNP: rs2051867806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Center, Key Laboratory of Carcinogenesis and Translational Research RCV001254333 SCV001430317 likely pathogenic Hereditary breast ovarian cancer syndrome 2020-05-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584827 SCV004360126 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-22 criteria provided, single submitter clinical testing This missense variant replaces glutamine with proline at codon 1721 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant has been reported to be loss-of-function in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in individuals affected with breast cancer (PMID: 32803532). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Brotman Baty Institute, University of Washington RCV001076517 SCV001242285 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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