ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.115_116TG[1] (p.Cys39_Asp40delinsTer) (rs80357972)

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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) RCV000077484 SCV000299406 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000162845 SCV000213332 pathogenic Hereditary cancer-predisposing syndrome 2018-06-28 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077484 SCV000324976 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759490 SCV000888835 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing
Invitae RCV001070624 SCV001235886 pathogenic Hereditary breast and ovarian cancer syndrome 2019-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys39*) in the BRCA1 gene. It is expected to result 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 families affected with breast and/or ovarian cancer (PMID: 10755399, 27062684). This variant is also known as 236delAG, 39delTG in the literature. ClinVar contains an entry for this variant (Variation ID: 54157). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077484 SCV000109282 pathogenic Breast-ovarian cancer, familial 1 2010-06-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077484 SCV000144356 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735464 SCV000863601 pathogenic Breast and/or ovarian cancer 2009-07-08 no assertion criteria provided clinical testing

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