Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661193 | SCV000783448 | 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 | RCV000473888 | SCV000549280 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-12-13 | 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 inserts 2 nucleotides in exon 16 of the BRCA1 mRNA (c.4996_4997dupTA), causing a frameshift at codon 1667. This creates a premature translational stop signal (p.Lys1667Thrfs*11) and is expected to result in an absent or disrupted protein product. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477970 | SCV004219433 | pathogenic | not provided | 2023-07-10 | criteria provided, single submitter | clinical testing | This variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in an individual with breast cancer (PMID: 29928469 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. |