Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112212 | SCV000300044 | 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 | RCV001383762 | SCV001583022 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast cancer (PMID: 8808710). This variant is also known as 4049delA in the literature. ClinVar contains an entry for this variant (Variation ID: 55055). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn1311Thrfs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Breast Cancer Information Core |
RCV000112212 | SCV000144919 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Laboratory for Genotyping Development, |
RCV003162412 | SCV002758468 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |