Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001176505 | SCV001340504 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001176505 | SCV004052552 | likely benign | Hereditary cancer-predisposing syndrome | 2023-07-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Labcorp Genetics |
RCV005091075 | SCV005802571 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-11-20 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000503697 | SCV000592186 | likely benign | not provided | no assertion criteria provided | clinical testing | The BRCA2 p.Asn2781Asn variant was not identified in the literature, nor was it identified in the dbSNP, 1000 Genomes Project, NHLBI Exome Sequencing Project, HGMD, LOVD, COSMIC, UMD or BIC databases. The variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign. |