Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000031352 | SCV000300481 | 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. |
| Ambry Genetics | RCV000223168 | SCV000275441 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | The p.L657* pathogenic mutation (also known as c.1970T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 1970. This changes the amino acid from a leucine to a stop codon within coding exon 10. This alteration was identified in a cohort of African American early-onset prostate cancer patients (Beebe-Dimmer JL et al. Prostate. 2018 04;78:321-326). 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. |
| Labcorp Genetics |
RCV000558782 | SCV000635194 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-30 | 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: 37771). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change creates a premature translational stop signal (p.Leu657*) 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 present in population databases (rs397507279, gnomAD 0.01%). |
| Gene |
RCV000657697 | SCV000779446 | pathogenic | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | This variant is denoted BRCA2 c.1970T>A at the cDNA level and p.Leu657Ter (L657X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic. |
| Baylor Genetics | RCV003473160 | SCV004211907 | pathogenic | Familial cancer of breast | 2023-12-18 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000031352 | SCV000053957 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2010-06-14 | no assertion criteria provided | clinical testing |