Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
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, |
RCV000112788 | SCV000564350 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
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 |
RCV000112788 | SCV000145684 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1998-04-20 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496864 | SCV000587076 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |