ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3279del (p.Tyr1094fs) (rs397509050)

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Total submissions: 8
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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) RCV000112043 SCV000299905 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 RCV000165817 SCV000216564 pathogenic Hereditary cancer-predisposing syndrome 2017-03-20 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)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112043 SCV000296428 pathogenic Breast-ovarian cancer, familial 1 2016-02-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112043 SCV000325596 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000482423 SCV000568416 pathogenic not provided 2016-04-22 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.3279delC at the cDNA level and p.Tyr1094IlefsX15 (Y1094IfsX15) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3390delC. The normal sequence, with the base that is deleted in braces, is AGGT[C]TATA. The deletion causes a frameshift which changes a Tyrosine to an Isoleucine at codon 1094, and creates a premature stop codon at position 15 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.3279delC has been observed in at least two families with breast and/or ovarian cancer (van der Hout 2006, Tazzite 2012). We consider this variant to be pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499817 SCV000591434 pathogenic Hereditary breast and ovarian cancer syndrome 2013-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112043 SCV000144696 pathogenic Breast-ovarian cancer, familial 1 2012-05-24 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735519 SCV000863657 pathogenic Breast and/or ovarian cancer 2013-08-16 no assertion criteria provided clinical testing

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