ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.799dup (p.Ser267fs)

dbSNP: rs80357724
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Total submissions: 5
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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) RCV000257867 SCV000323912 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257867 SCV000326413 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985446 SCV001133646 pathogenic not provided 2018-10-20 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV001203947 SCV001375132 pathogenic Hereditary breast ovarian cancer syndrome 2019-09-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in a family affected with ovarian and breast cancer (PMID: 17688236). ClinVar contains an entry for this variant (Variation ID: 55709). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser267Phefs*20) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003298098 SCV004004311 pathogenic Hereditary cancer-predisposing syndrome 2023-04-06 criteria provided, single submitter clinical testing The c.799dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 799, causing a translational frameshift with a predicted alternate stop codon (p.S267Ffs*20). This alteration was identified in 1 of 283 epithelial ovarian cancer families from the United Kingdom and the United States undergoing BRCA1/2 genetic testing (Ramus SJ et al. Hum Mutat, 2007 Dec;28:1207-15). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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