ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5152+1G>A (rs80358094)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222947 SCV000276835 pathogenic Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion);Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112514 SCV000326172 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000798093 SCV000937690 pathogenic Hereditary breast and ovarian cancer syndrome 2019-02-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with a personal or family history of breast and/or ovarian cancer (PMID: 26287763, 29470806, 29446198, 22438049). This variant is also known as 5271+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 125768). Experimental studies have shown that this variant disrupts mRNA splicing and/or protein function (PMID: 30209399). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112514 SCV000145336 pathogenic Breast-ovarian cancer, familial 1 2009-04-28 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112514 SCV000189285 pathogenic Breast-ovarian cancer, familial 1 2011-03-09 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112514 SCV001241769 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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