Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113888 | SCV000301254 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 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 |
RCV000113888 | SCV000327839 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000496939 | SCV001207565 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-01-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2737Serfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 31273614). This variant is also known as c.8437insAG. ClinVar contains an entry for this variant (Variation ID: 126169). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Breast Cancer Information Core |
RCV000113888 | SCV000147299 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2013-02-20 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496939 | SCV000587938 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |