Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031471 | SCV000300725 | pathogenic | Breast-ovarian cancer, familial 2 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Gene |
RCV000219707 | SCV000278850 | pathogenic | not provided | 2015-08-25 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted BRCA2 c.4243G>T at the cDNA level and p.Glu1415Ter (E1415X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, previously reported as c.4471G>T and p.Glu1416X, has been observed in multiple individuals with Hereditary Breast and Ovarian Cancer (Walsh 2011, Kluska 2015) and is considered pathogenic. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000031471 | SCV000326994 | pathogenic | Breast-ovarian cancer, familial 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000510028 | SCV000607819 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-18 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense) |
Counsyl | RCV000031471 | SCV000786424 | pathogenic | Breast-ovarian cancer, familial 2 | 2018-04-30 | criteria provided, single submitter | clinical testing | |
Department of Genetics, |
RCV000031471 | SCV000891482 | pathogenic | Breast-ovarian cancer, familial 2 | 2017-12-30 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV000762917 | SCV000893329 | pathogenic | Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Color | RCV000510028 | SCV000903413 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031471 | SCV000054076 | pathogenic | Breast-ovarian cancer, familial 2 | 2011-08-19 | no assertion criteria provided | clinical testing |