ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8050G>C (p.Asp2684His)

dbSNP: rs1561620240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708644 SCV000821827 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708644 SCV004007374 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-02 criteria provided, single submitter clinical testing The p.D2684H variant (also known as c.8050G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 8050. The aspartic acid at codon 2684 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000708644 SCV004358575 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-21 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with histidine at codon 2684 of the APC protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. 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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