ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6132C>A (p.Gly2044=) (rs1057520745)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417801 SCV000517276 likely benign not specified 2015-11-04 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.
Invitae RCV000588613 SCV000635491 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570584 SCV000666035 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000570584 SCV000683757 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588613 SCV000694943 likely benign not provided 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6132C>A (p.Gly2044Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant is absent in 120848 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. However, an internal LCA sample reports the variant of interest to co-occur with another potentially pathogenic BRCA2 mutation, c.574_575delAT (p.Met192fsX13). Taken together, this variant is classified as likely benign.

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