Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000241109 | SCV000300520 | 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. |
| Labcorp Genetics |
RCV000043995 | SCV000072008 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-28 | 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: 51286). This variant is also known as 2670delC. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10323242, 25927356, 29566657). This variant is present in population databases (rs760027075, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Met815Trpfs*10) 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). |
| Color Diagnostics, |
RCV000584478 | SCV000688755 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-06-02 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast cancer (PMID: 10323242, 25927356). This variant has been identified in 1/244060 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Baylor Genetics | RCV003473313 | SCV004210361 | pathogenic | Familial cancer of breast | 2023-03-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000584478 | SCV005550114 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-09-25 | criteria provided, single submitter | clinical testing | The c.2442delC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 2442, causing a translational frameshift with a predicted alternate stop codon (p.M815Wfs*10). 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. |