Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044365 | SCV001208159 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-02-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu350*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002400253 | SCV002706389 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-28 | criteria provided, single submitter | clinical testing | The p.E350* pathogenic mutation (also known as c.1048G>T), located in coding exon 9 of the BRCA2 gene, results from a G to T substitution at nucleotide position 1048. This changes the amino acid from a glutamic acid 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. |