Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661243 | SCV000783506 | 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. |
Ambry Genetics | RCV000214451 | SCV000277062 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.5328delC pathogenic mutation, located in coding exon 19 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5328, causing a translational frameshift with a predicted alternate stop codon (p.T1777Qfs*16). This mutation has been reported in one Greek individual diagnosed with breast cancer at age 32 (Konstantopoulou I et al. Clin Genet, 2014 Jan;85:36-42). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |
Invitae | RCV001237029 | SCV001409776 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-05-10 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with breast cancer (PMID: 24010542). ClinVar contains an entry for this variant (Variation ID: 232820). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1777Glnfs*16) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). |