ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4801_4803del (p.Asp1601del) (rs730881609)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160291 SCV000210755 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA2 is denoted c.4801_4803delGAT at the cDNA level and p.Asp1601del at the protein level. The normal sequence, with the bases that are deleted in braces, is TAAT[GAT]AAAAAC. This deletion of a single Aspartic Acid residue occurs at a position that is not conserved across species and is located within the RAD51 and POLH binding domains (Roy 2012, Buisson 2014). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. 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 Asp1601del to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000781064 SCV000918868 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4801_4803delGAT (p.Asp1601del) variant involves the deletion of three adjacent nucleotides leading to in-frame deletion of codon Asp1601. One in silico tool predicts a disease-causing outcome for this variant. This variant is absent in 245334 control chromosomes. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000558213 SCV000635406 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-21 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 11 of the BRCA2 mRNA (c.4801_4803delGAT). This leads to the deletion of 1 amino acid residue in the BRCA2 protein (p.Asp1601del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 182316). 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, this is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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