ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9502-17T>C (rs752544229)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422898 SCV000512399 likely benign not specified 2017-08-25 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 RCV000586155 SCV000560511 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586155 SCV000695248 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9502-17T>C variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/120994 control chromosomes at a frequency of 0.0000331, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). An internal LCA sample reports the variant to co-occur with a pathogenic BRCA2 variant, c.8414_8416delinsC (p.Leu2805fsX6 - classified as pathogenic by LCA). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. A publication cites the variant in 2 affected BrC pts (1 - male and 1 - female), however, with limited information (ie, only BRCA2 was screened and cosegregation data was not provided. Taken together, this variant is classified as "likely benign."
Color RCV000773175 SCV000906732 likely benign Hereditary cancer-predisposing syndrome 2017-09-24 criteria provided, single submitter clinical testing

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