Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551451 | SCV000635837 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-05-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This sequence change deletes 1 nucleotide from exon 10 of the BRCA1 mRNA (c.2228delA), causing a frameshift at codon 743. This creates a premature translational stop signal (p.Asn743Metfs*10) and is expected to result in an absent or disrupted protein product. |