ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3442del (p.Glu1148fs) (rs80357808)

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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) RCV000031111 SCV000299943 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 RCV000130808 SCV000185704 pathogenic Hereditary cancer-predisposing syndrome 2019-08-26 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 RCV000031111 SCV000325658 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001174630 SCV001337836 pathogenic Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.3442delG (p.Glu1148ArgfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251228 control chromosomes. c.3442delG has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (eg. Sugano_2008, Kwon_2019). These data indicate that the variant is very likely to be associated with disease. Two clinical diagnostic laboratories and one expert panel have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Color RCV000130808 SCV001345623 pathogenic Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031111 SCV000053707 pathogenic Breast-ovarian cancer, familial 1 2012-02-13 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031111 SCV000144766 pathogenic Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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