Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054485 | SCV001218802 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-03-19 | 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 not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys260*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002409452 | SCV002673270 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-27 | criteria provided, single submitter | clinical testing | The p.K260* pathogenic mutation (also known as c.778A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 778. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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. |