ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9649-6del (rs276174929)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175364 SCV000695259 uncertain significance not specified 2019-09-30 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9649-6delT alters a non-conserved nucleotide located in the thymine nucleotide poly-T tract of intron 26, close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 242742 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.9649-6delT in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000590496 SCV001064270 likely benign not provided 2018-01-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV001178881 SCV001343438 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Invitae RCV001480503 SCV001684822 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083007 SCV000115081 uncertain significance Breast-ovarian cancer, familial 2 2012-01-25 no assertion criteria provided clinical testing

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