Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534199 | SCV000635861 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-05-04 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 8 nucleotides from exon 10 of the BRCA1 mRNA (c.2680_2687delAAACAAAG), causing a frameshift at codon 894. This creates a premature translational stop signal (p.Lys894Serfs*6) and is expected to result in an absent or disrupted protein product. |