ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.794_795del (p.Ser265fs) (rs80357955)

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Total submissions: 6
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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) RCV000112788 SCV000299484 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657216 SCV000296312 pathogenic not provided 2019-03-29 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Department of Medical Genetics,Oslo University Hospital RCV000112788 SCV000564350 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000657216 SCV000778942 pathogenic not provided 2018-01-31 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA1 is denoted c.794_795delCT at the cDNA level and p.Ser265CysfsX21 (S265CfsX21) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGTT[delCT]GTTT. The deletion causes a frameshift which changes a Serine to a Cysteine at codon 265, and creates a premature stop codon at position 21 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.794_795delCT, also defined as 913delCT using alternate nomenclature, has been observed in individuals with personal and/or family history of breast and/or ovarian cancer (Borg 1999, Heramb 2018). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112788 SCV000145684 pathogenic Breast-ovarian cancer, familial 1 1998-04-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496864 SCV000587076 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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