ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.794_795del (p.Ser265fs)

dbSNP: rs80357955
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Total submissions: 7
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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, susceptibility to, 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, susceptibility to, 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.
Ambry Genetics RCV002415506 SCV002677968 pathogenic Hereditary cancer-predisposing syndrome 2020-06-02 criteria provided, single submitter clinical testing The c.794_795delCT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 794 to 795, causing a translational frameshift with a predicted alternate stop codon (p.S265Cfs*21). This alteration was identified in a Norwegian individual diagnosed with ovarian cancer at 35 (Borg A et al. Dis. Markers, 1999 Oct;15:79-84). Additionally, in a large, clinic-based BRCA1/2 testing cohort in Norway, this variant was detected in 2 families (Heramb C et al. Hered Cancer Clin Pract, 2018 Jan;16:3). This alteration is also described in the literature as 913delCT. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112788 SCV000145684 pathogenic Breast-ovarian cancer, familial, susceptibility to, 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 ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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