ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.636A>G (p.Arg212=) (rs950724350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563488 SCV000668590 likely benign Hereditary cancer-predisposing syndrome 2015-12-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588569 SCV000694969 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.636A>G (p.Arg212Arg) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 95616 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. Taken together, this variant is classified as VUS-possibly benign until more information becomes available.
Invitae RCV000469866 SCV000560374 likely benign Hereditary breast and ovarian cancer syndrome 2017-06-23 criteria provided, single submitter clinical testing

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