ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3333del (p.Glu1112fs) (rs80357966)

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Total submissions: 9
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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) RCV000112071 SCV000299924 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 RCV000222426 SCV000274050 pathogenic Hereditary cancer-predisposing syndrome 2015-02-05 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112071 SCV000325621 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000480497 SCV000568413 pathogenic not provided 2017-03-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.3333delA at the cDNA level and p.Glu1112AsnfsX5 (E1112NfsX5) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3452delA. The normal sequence, with the base that is deleted in brackets, is AGCA[delA]GAAT. The deletion causes a frameshift which changes a Glutamic Acid to an Asparagine at codon 1112, and creates a premature stop codon at position 5 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.3333delA has been reported in several patients of Asian ethnicity with personal and/or family histories of breast and/or ovarian cancer (Elit 2001, Elit 2002, Hasmad 2015, Kwong 2016, Wong 2016). We consider this variant to be pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496291 SCV000591439 pathogenic Hereditary breast and ovarian cancer syndrome 2015-06-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000480497 SCV000888884 pathogenic not provided 2018-01-13 criteria provided, single submitter clinical testing
Color RCV000222426 SCV000909307 pathogenic Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112071 SCV000144726 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 RCV000496291 SCV000587300 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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