Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000256732 | SCV000323320 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000256732 | SCV000325076 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000519520 | SCV000617454 | pathogenic | not provided | 2017-07-26 | criteria provided, single submitter | clinical testing | This variant is denoted BRCA1 c.1465G>T at the cDNA level and p.Glu489Ter (E489X) at the proteinlevel. 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 has been reported in association with hereditary breast and ovarian cancer (Zhi2002, Cao 2016) and is considered pathogenic |
3DMed Clinical Laboratory Inc | RCV000677813 | SCV000803972 | pathogenic | Breast neoplasm | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386706 | SCV001587047 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-05-13 | 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 individual(s) with breast and/or ovarian cancer (PMID: 12442274, 31174498, 30078507). This variant is also known as c.1584G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54262). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu489*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |