ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1389_1391del (p.Val465del)

dbSNP: rs1060502405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469014 SCV000549558 uncertain significance Hereditary breast ovarian cancer syndrome 2021-03-27 criteria provided, single submitter clinical testing In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change deletes 3 nucleotides from exon 10 of the BRCA2 mRNA (c.1389_1391delAGT). This leads to the deletion of 1 amino acid residue in the BRCA2 protein (p.Val465del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual with benign breast disease (PMID: 14973102). ClinVar contains an entry for this variant (Variation ID: 409457). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown.
Ambry Genetics RCV001011221 SCV001171518 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing The c.1389_1391delAGT variant (also known as p.V465del) is located in coding exon 9 of the BRCA2 gene. This variant results from an in-frame AGT deletion at nucleotide positions 1389 to 1391. This results in the in-frame deletion of a valine at codon 465. This alteration has been reported in 1/342 Chinese probands with benign breast disease and 0/319 controls (Suter NM et al. Cancer Epidemiol. Biomarkers Prev., 2004 Feb;13:181-9). 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.
Color Diagnostics, LLC DBA Color Health RCV001011221 SCV001349189 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-30 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of 1 amino acid, valine 465, in the BRCA2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with benign breast disease (PMID: 14973102). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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