Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112805 | SCV000299492 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507004 | SCV000600443 | pathogenic | not provided | 2017-02-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001017936 | SCV001179104 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-06-17 | criteria provided, single submitter | clinical testing | The c.851_852delAG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 851 to 852, causing a translational frameshift with a predicted alternate stop codon (p.Q284Pfs*2). 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 | RCV002513671 | SCV003498268 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55740). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln284Profs*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 |
RCV000112805 | SCV000145706 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-11-25 | no assertion criteria provided | clinical testing |