Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111522 | SCV000299517 | 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. |
Ambry Genetics | RCV002381411 | SCV002693198 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-02-26 | criteria provided, single submitter | clinical testing | The c.984_985insC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of one nucleotide at position 984, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV002514557 | SCV003206951 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-07-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 125481). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change creates a premature translational stop signal (p.Asn329Glnfs*2) 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). |
Breast Cancer Information Core |
RCV000111522 | SCV000143973 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1997-11-14 | no assertion criteria provided | clinical testing |