ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1204del (p.Glu402fs) (rs80357859)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573323 SCV000661096 pathogenic Hereditary cancer-predisposing syndrome 2017-11-22 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)
Breast Cancer Information Core (BIC) (BRCA1) RCV000111566 SCV000144030 pathogenic Breast-ovarian cancer, familial 1 1997-04-02 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111566 SCV000324983 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000111566 SCV000785771 pathogenic Breast-ovarian cancer, familial 1 2017-11-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000656644 SCV000858440 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111566 SCV000299557 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000047378 SCV000918670 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-24 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1204delG (p.Glu402SerfsX8) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 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 (e.g. c.1512dupT, c.1674delA, c.1961delA, etc.). This variant is absent in 245618 control chromosomes (gnomAD). This variant has been reported in two unrelated HBOC patients in literature (Struewing_1995, Machackova_2008). In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.
Invitae RCV000047378 SCV000075391 pathogenic Hereditary breast and ovarian cancer syndrome 2014-11-06 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656644 SCV000778771 pathogenic not provided 2017-12-07 no assertion criteria provided clinical testing

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