ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.475+4del (rs276174848)

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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 RCV000569643 SCV000661284 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000569643 SCV000688892 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588562 SCV000694800 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.475+4delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict this variant to weaken the 5' splicing donor site (7.9-23%). 1/5 splice prediction tools predict this variant may create a novel 3' splicing acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121004 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases provided conflicting classification: likely pathogenic and VUS. Taken together, this variant is classified as VUS.
Sharing Clinical Reports Project (SCRP) RCV000031502 SCV000054107 likely pathogenic Breast-ovarian cancer, familial 2 2011-10-18 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031502 SCV000146936 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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