Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661120 | SCV000783368 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Invitae | RCV000471571 | SCV000549291 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-05-31 | criteria provided, single submitter | clinical testing | This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.1949dupT), causing a frameshift at codon 652. This creates a premature translational stop signal (p.Lys652Glufs*21) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584).  Additionally, different frameshift mutations (c.1953dupG, c.1950_1953delAAAG, c.1952dupA) producing the same premature translational stop signal, have been reported in the literature in individuals affected with breast cancer (PMID: 25452441, 25682074) For these reasons, this variant has been classified as Pathogenic. |