Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000574412 | SCV000666159 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-06-24 | criteria provided, single submitter | clinical testing | The c.9212dupA pathogenic mutation, located in coding exon 23 of the BRCA2 gene, results from a duplication of A at nucleotide position 9212, causing a translational frameshift with a predicted alternate stop codon (p.V3072Gfs*39). 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001731792 | SCV001983734 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-02-26 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.9212dupA (p.Val3072GlyfsX39) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251260 control chromosomes. c.9212dupA has been reported in the literature in individuals affected with prostate and pancreatic cancers (e.g. Yamamoto_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 35870019). ClinVar contains an entry for this variant (Variation ID: 481606). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV001731792 | SCV003260949 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-12-21 | 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: 481606). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val3072Glyfs*39) 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). |
| Laboratory for Genotyping Development, |
RCV003159962 | SCV002758258 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |