ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8531A>C (p.Glu2844Ala)

dbSNP: rs900871740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781130 SCV000918982 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8531A>C (p.Glu2844Ala) variant involves the alteration of a conserved nucleotide located in the Tower domain of the protein (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 245916 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
GeneDx RCV004719984 SCV005326191 uncertain significance not provided 2024-02-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 8759A>C; This variant is associated with the following publications: (PMID: 12228710)

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