rs143165732
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006052.2(VPS26C):āc.625G>Cā(p.Val209Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000333 in 1,612,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006052.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000165 AC: 25AN: 151372Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000127 AC: 32AN: 250998Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135726
GnomAD4 exome AF: 0.000350 AC: 512AN: 1460788Hom.: 0 Cov.: 31 AF XY: 0.000311 AC XY: 226AN XY: 726680
GnomAD4 genome AF: 0.000165 AC: 25AN: 151372Hom.: 0 Cov.: 33 AF XY: 0.0000947 AC XY: 7AN XY: 73922
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at