ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)

dbSNP: rs1566223700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709299 SCV000838757 likely pathogenic Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000989002 SCV001139000 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525906 SCV001736112 pathogenic Hereditary cancer-predisposing syndrome 2023-11-20 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 10 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual with a personal or family history of BRCA2-related cancer (PMID: 29673794). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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