ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9547A>G (p.Ile3183Val) (rs377123889)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129405 SCV000184174 likely benign Hereditary cancer-predisposing syndrome 2015-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Color RCV000129405 SCV000906822 benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585947 SCV000695251 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9547A>G (p.Ile3183Val) variant located in the Nucleic acid-binding, OB-fold domain (via InterPro) involves the alteration of a non-conserved nucleotide and 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome. However, these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121396, which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although multiple clinical diangostic laboratories/databases has classified the variant as "likely benign/benign," without information to allow for an independent evaluation. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Invitae RCV000637985 SCV000759465 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083004 SCV000115078 benign Breast-ovarian cancer, familial 2 2010-09-28 no assertion criteria provided clinical testing

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