Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111871 | SCV000299774 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111871 | SCV000325364 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453422 | SCV002738294 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-23 | criteria provided, single submitter | clinical testing | The c.2474dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2474, causing a translational frameshift with a predicted alternate stop codon (p.D825Efs*6). 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 | RCV002513939 | SCV003223732 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp825Glufs*6) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 125571). For these reasons, this variant has been classified as Pathogenic. |
Breast Cancer Information Core |
RCV000111871 | SCV000144449 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-11-25 | no assertion criteria provided | clinical testing |