ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)

dbSNP: rs80357009
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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) RCV000112783 SCV000299480 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.
Ambry Genetics RCV000162890 SCV000213377 pathogenic Hereditary cancer-predisposing syndrome 2015-09-10 criteria provided, single submitter clinical testing The p.E255* pathogenic mutation (also known as c.763G>T and 882G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 763. This changes the amino acid from a glutamate to a stop codon within coding exon 9. This pathogenic mutation has previously been reported in a family affected with both breast and ovarian cancers (Sinilnikova OM et al. Fam Cancer. 2006;5(1):15-20). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112783 SCV000326405 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001381877 SCV001580448 pathogenic Hereditary breast ovarian cancer syndrome 2021-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individuals with a personal and/or family history of breast and/or ovarian cancer (PMID: 16528604, 29446198, 29907814). ClinVar contains an entry for this variant (Variation ID: 55693). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu255*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Baylor Genetics RCV000112783 SCV004212719 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-10-14 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493431 SCV004242844 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112783 SCV000145678 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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