Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077140 | SCV000300070 | 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 |
RCV000077140 | SCV000325844 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000585646 | SCV000693530 | pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is a single amino acid change from Leucine to a termination codon at amino acid residue 1365 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. The mutation database ClinVar contains entries for this variant (Variation ID: 91623). Truncating variants in the BRCA1 gene are known to be pathogenic. |
Invitae | RCV001854355 | SCV002235735 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-30 | 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: 91623). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 28724667, 29446198). This sequence change creates a premature translational stop signal (p.Leu1365*) 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). |
Sharing Clinical Reports Project |
RCV000077140 | SCV000108937 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-05-09 | no assertion criteria provided | clinical testing |