ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.631+7A>G (rs431825339)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000082956 SCV000489080 uncertain significance Breast-ovarian cancer, familial 2 2016-08-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499706 SCV000591700 uncertain significance not specified 2016-07-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585985 SCV000694959 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.631+7A>G variant involves the alteration of a non-conserved intronic nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120458 control chromosomes. Multiple clinical diagnostic laboratories/reputable database classified this variant as uncertain significance. A publication cites the variant in an affected individual (dx with BrC before the age of 50), who also carried a ATM variant, c.3154-4G>A (classified as VUS-possibly benign by LCA), however, cosegregation data was not provided. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Invitae RCV000477537 SCV000560406 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082956 SCV000115030 uncertain significance Breast-ovarian cancer, familial 2 2012-06-05 no assertion criteria provided clinical testing

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