ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1086_1141del (p.Asn363fs) (rs80359875)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572277 SCV000665806 pathogenic Hereditary cancer-predisposing syndrome 2016-03-04 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) RCV000077056 SCV000144003 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077056 SCV000324951 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077056 SCV000299548 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 RCV000465634 SCV000916710 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-26 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1086_1141del56 (p.Asn363SerfsX2) 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 (e.g., p.Glu402fsX8 and p.Leu413fsX5). The variant was absent in 121372 control chromosomes. c.1086_1141del56 has been reported in the literature and databases in individuals affected with Hereditary Breast and Ovarian Cancer. These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV000465634 SCV000549276 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn363Serfs*2) 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 reported in individuals with a personal or family history of breast and/or ovarian cancer (PMID: 16030099, 12879478). This variant is also known as 1205del56 in the literature. ClinVar contains an entry for this variant (Variation ID: 91539). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000465634 SCV000587103 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077056 SCV000108853 pathogenic Breast-ovarian cancer, familial 1 2012-10-06 no assertion criteria provided clinical testing

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