ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.67+16A>G (rs529148674)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204458 SCV000260976 benign Hereditary breast and ovarian cancer syndrome 2020-11-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000204458 SCV000494409 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-15 criteria provided, single submitter clinical testing Variant summary: The c.67+16A>G variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 18/105310 control chromosomes at a frequency of 0.0001709, predominantly found in South Asian subpopulation with observed MAF of 0.00125, which exceeds the maximal expected frequency of a pathogenic allele (0.0007503), suggesting this variant is likely a benign polymorphism primarily found in the South Asian population. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. One clinical lab via ClinVar classified this variant as "benign", without evidence to independently evaluate. Considering all, the variant was classified as likely benign until additional information becomes available.
GeneDx RCV000438848 SCV000520550 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000579688 SCV000683799 likely benign Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing

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