Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
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 |
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, |
RCV003493431 | SCV004242844 | pathogenic | not provided | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112783 | SCV000145678 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |