ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.641_643AAG[1] (p.Glu215del) (rs80359588)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456129 SCV000072972 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-11 criteria provided, single submitter clinical testing This variant, c.644_646delAAG, results in the deletion of 1 amino acid of the BRCA2 protein (p.Glu215del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746887088, ExAC 0.01%) This variant has been reported in an individual affected with breast cancer (PMID: 27257965), where it is misreferenced as p.E213del. ClinVar contains an entry for this variant (Variation ID: 52106). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid residue is currently unknown. In summary, this is a rare in-frame deletion of one amino acid residue with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000129988 SCV000184812 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other data supporting benign classification
GeneDx RCV000044959 SCV000210704 uncertain significance Familial cancer of breast 2013-12-19 criteria provided, single submitter clinical testing This variant, in exon 8 of the BRCA2 gene, is denoted c.644_646delAAG at the DNA level or p.Glu215del (E215del) at the protein level. The normal sequence with the bases that are deleted in braces is: TGAAG{delAAG}CATCT. This in frame deletion of 3 base pairs results in the loss of a single Glutamic acid residue at a position that is well conserved throughout evolution, however, it is not located in a known functional domain. BRCA2 c.644_646delAAG has not, to our knowledge, been reported as a mutation or as a benign polymorphism. It has been reported in the Breast Cancer Information Core (BIC) database with unknown clinical importance. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time. Based on currently available information, we consider BRCA2 c.644_646delAAG to be a variant of unknown significance. The variant is found in BRCA1-BRCA2 panel(s).
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240708 SCV000265927 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000679180 SCV000805744 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000456129 SCV000838741 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000129988 SCV000903092 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113949 SCV000147385 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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