Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113633 | SCV000301099 | 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 |
RCV000113633 | SCV000327504 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362674 | SCV002664585 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-05 | criteria provided, single submitter | clinical testing | The p.E2239* pathogenic mutation (also known as c.6715G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 6715. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. 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. This alteration was identified in one patient with a personal and family history of early-onset breast cancer amongst a cohort of 187 Malaysian breast cancer patients undergoing HBOC genetic testing (Thirthagiri E et al. Breast Cancer Res, 2008 Jul;10:R59). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |
Baylor Genetics | RCV003473387 | SCV004212787 | pathogenic | Familial cancer of breast | 2022-06-03 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000113633 | SCV000146916 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2010-09-18 | no assertion criteria provided | clinical testing |