ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112516 SCV000244415 pathogenic Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 1
Invitae RCV000048820 SCV000076833 pathogenic Hereditary breast and ovarian cancer syndrome 2019-07-06 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 individuals and families affected with breast and/or ovarian cancer (PMID: 7493024, 29446198). This variant is also known as 5271+1G>T and IVS18+1G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 55423). Based on a multifactorial likelihood algorithm using in silico and statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 18375895, 21990134). Experimental studies have shown that this variant disrupts mRNA splicing and protein function (PMID: 30101128, 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112516 SCV000326174 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000771916 SCV000904693 pathogenic Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112516 SCV000145338 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112516 SCV001241771 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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