ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.112_113del (p.Lys38fs) (rs80357949)

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Total submissions: 7
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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) RCV000111790 SCV000299405 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047355 SCV000075368 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-15 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides in exon 3 of the BRCA1 mRNA (c.112_113delAA), causing a frameshift at codon 38. This creates a premature translational stop signal (p.Lys38Valfs*2) and is expected to result in an absent or disrupted protein product. This variant has been observed in several individuals affected with breast and/or ovarian cancer (PMID: 8533757, 11844822, 9145677, 14760071, 21080930). This variant is also known as c.230delAA and c.231delAA in the literature. ClinVar contains an entry for this variant (Variation ID: 54141). 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 RCV000111790 SCV000324959 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574475 SCV000660935 pathogenic Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759488 SCV000888833 pathogenic not provided 2018-07-10 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111790 SCV000144333 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047355 SCV000587011 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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