ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7601C>G (p.Ala2534Gly)

dbSNP: rs74047012
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Total submissions: 1
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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 RCV000586147 SCV000695082 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7601C>G (p.Ala2534Gly) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant is absent in 120468 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.

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