Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000494841 | SCV000579199 | likely benign | Breast-ovarian cancer, familial 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Ambry Genetics | RCV000166114 | SCV000216883 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000810701 | SCV000950929 | uncertain significance | Hereditary breast and ovarian cancer syndrome | 2018-11-30 | criteria provided, single submitter | clinical testing | This sequence change affects codon 1298 of the BRCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 186508). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |