Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112430 | SCV000300174 | 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. |
Invitae | RCV000048703 | SCV000076716 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 55326). This premature translational stop signal has been observed in individual(s) with unknown clinical presentation that formed part of a large breast/ovarian cancer study (PROSE consortium) (PMID: 10923033, 20104584, 22430266). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1647Lysfs*11) 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). For these reasons, this variant has been classified as Pathogenic. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000112430 | SCV000326068 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001191304 | SCV001359064 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Breast Cancer Information Core |
RCV000112430 | SCV000145217 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |