ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) (rs386134270)

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Total submissions: 12
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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) RCV000077529 SCV000282292 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768645 SCV000219223 pathogenic Breast and/or ovarian cancer 2017-07-26 criteria provided, single submitter clinical testing
Invitae RCV000200323 SCV000255307 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser945Thrfs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397509016, ExAC 0.00082%). This variant has been reported in individuals affected with breast and ovarian cancer from the French-Canadian population (PMID: 8933332, 16905680, 21324516, 23621881, 25884701). This variant is also known as 2953del3+C and 2953delGTAinsC in the literature. ClinVar contains an entry for this variant (Variation ID: 54696). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077529 SCV000296486 pathogenic Breast-ovarian cancer, familial 1 2016-06-10 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077529 SCV000325472 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000480902 SCV000566541 pathogenic not provided 2017-03-22 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA1 c.2834_2836delGTAinsC at the cDNA level and p.Ser945ThrfsX6 (S945TfsX6) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is TGTA[delGTA][insC]TCAA. The variant causes a frameshift, which changes a Serine to a Threonine at codon 945, and creates a premature stop codon at position 6 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.2834_2836delGTAinsC, previously reported as c.2953_2955delGTAinsC, has been identified in individuals with hereditary breast and/or ovarian cancer and is a common pathogenic variant in the French Canadian population (Durocher 1996, Tonin 1998, Oros 2004, Simard 2007, Ghadirian 2014). We consider this variant to be pathogenic.
Department of Pathology and Molecular Medicine,Queen's University RCV000200323 SCV000588042 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000200323 SCV000591412 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Color RCV000583567 SCV000688402 pathogenic Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077529 SCV000109330 pathogenic Breast-ovarian cancer, familial 1 2012-05-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077529 SCV000144558 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 RCV000200323 SCV000587256 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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