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
Color RCV000773175 SCV000906732 likely benign Hereditary cancer-predisposing syndrome 2017-09-24 criteria provided, single submitter clinical testing
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.
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."
Invitae RCV000461640 SCV000560511 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-28 criteria provided, single submitter clinical testing

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