ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.708TGA[1] (p.Asp237del)

dbSNP: rs876660483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221639 SCV000277948 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-18 criteria provided, single submitter clinical testing The c.711_713delTGA variant (also known as p.D237del) is located in coding exon 8 of the BRCA2 gene. This variant results from an in-frame TGA deletion at nucleotide positions 711 to 713. This results in the in-frame deletion of an aspartic acid at codon 237. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001366194 SCV001562490 uncertain significance Hereditary breast ovarian cancer syndrome 2020-02-05 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 233551). This variant is not present in population databases (ExAC no frequency). This variant, c.711_713del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Asp237del), but otherwise preserves the integrity of the reading frame.

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