Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112544 | SCV000300217 | 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. |
Gene |
RCV000657594 | SCV000779333 | pathogenic | not provided | 2015-10-22 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted BRCA1 c.5173G>T at the cDNA level and p.Glu1725Ter (E1725X) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 5292G>T. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), 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 a family with several breast and ovarian cancer diagnoses (Bergman 2005) and is considered pathogenic. |
Color Diagnostics, |
RCV001179279 | SCV001343894 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 18 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Invitae | RCV002513666 | SCV003441896 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-05-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55442). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 30702160). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1725*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). |
Breast Cancer Information Core |
RCV000112544 | SCV000145369 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-12-30 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112544 | SCV001243717 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro | ||
BRCAlab, |
RCV000112544 | SCV004243938 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |