ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5332+1G>A (rs80358041)

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Total submissions: 8
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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) RCV000112615 SCV000282245 pathogenic Breast-ovarian cancer, familial 1 2016-04-03 reviewed by expert panel curation Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. Variant allele produces r.5278_5332del transcript (encoding predicted non-functional protein).
Invitae RCV000048933 SCV000076946 pathogenic Hereditary breast and ovarian cancer syndrome 2019-08-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the BRCA1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Loss-of function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with breast/ovarian cancer (PMID: 11084537, 19629752). Different variants affecting this nucleotide have been reported in individuals affected with breast cancer (PMID: 16324400, 27083178), indicating that this nucleotide may be crucial for normal mRNA splicing. Experimental studies have shown that this splice donor change results in skipping of exon 20, also known as exon 21 (PMID: 23451180, 24667779). This variant is also referred to as 5451+1G>A in the literature. For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112615 SCV000326268 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508361 SCV000600415 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565923 SCV000668384 pathogenic Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family;Functionally-validated splicing mutation;Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Color RCV000565923 SCV000904691 pathogenic Hereditary cancer-predisposing syndrome 2018-07-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112615 SCV000145457 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112615 SCV001243075 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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