ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6938-25_6938-19del (rs762815401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481901 SCV000569581 likely benign not specified 2017-10-09 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.
Integrated Genetics/Laboratory Corporation of America RCV000590367 SCV000695010 likely benign not provided 2016-11-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6938-25_6938-19delGTAATAT variant involves the deletion of 7 intronic nucleotides. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on the canonical splicing site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 6/89322 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.0011655 (6/5148). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant has not, to our knowledge, been reported in affected individuals with HBOC spectrum of disease in the literature. Taken together, this variant is classified as likely benign until more information becomes available.

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