ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6714_6716delTGA (p.Asp2238del) (rs786202738)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165702 SCV000216443 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Insufficient or conflicting evidence,Insufficient evidence
GeneDx RCV000218848 SCV000279516 uncertain significance not specified 2017-03-21 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRCA2 is denoted c.6714_6716delTGA at the cDNA level and p.Asp2238del (D2238del) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 6942_6944delTGA. The normal sequence, with the bases that are deleted in braces, is ATGA[TGA]ACTG. This deletion of a single Aspartic Acid residue occurs at a position that is not conserved and is not located in a known functional domain (UniProt). This variant has not, to our knowledge, been published in the literature as either a pathogenic germline variant or a benign polymorphism. However, it was observed in the post-chemotherapy breast tumor of an individual with triple negative breast cancer (Balko 2014). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Asp2238del to be a variant of uncertain significance.
Invitae RCV000464960 SCV000549572 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-08-26 criteria provided, single submitter clinical testing This variant, c.6714_6716delTGA, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Asp2238del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 186159). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.
Sharing Clinical Reports Project (SCRP) RCV000238873 SCV000297547 likely benign Breast-ovarian cancer, familial 2 2010-09-28 no assertion criteria provided clinical testing

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