chr4-961475-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001347.4(DGKQ):c.2566G>A(p.Val856Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000234 in 1,598,178 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001347.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DGKQ | NM_001347.4 | c.2566G>A | p.Val856Met | missense_variant | Exon 21 of 23 | ENST00000273814.8 | NP_001338.2 | |
DGKQ | XM_047449687.1 | c.2653G>A | p.Val885Met | missense_variant | Exon 21 of 23 | XP_047305643.1 | ||
DGKQ | XM_011513411.2 | c.2566G>A | p.Val856Met | missense_variant | Exon 21 of 23 | XP_011511713.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DGKQ | ENST00000273814.8 | c.2566G>A | p.Val856Met | missense_variant | Exon 21 of 23 | 1 | NM_001347.4 | ENSP00000273814.3 | ||
DGKQ | ENST00000509465.5 | c.2365G>A | p.Val789Met | missense_variant | Exon 20 of 22 | 5 | ENSP00000425862.1 | |||
DGKQ | ENST00000515182.1 | c.211G>A | p.Val71Met | missense_variant | Exon 3 of 5 | 5 | ENSP00000421756.1 |
Frequencies
GnomAD3 genomes AF: 0.000302 AC: 46AN: 152122Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00118 AC: 254AN: 216102Hom.: 3 AF XY: 0.000831 AC XY: 99AN XY: 119116
GnomAD4 exome AF: 0.000228 AC: 329AN: 1445940Hom.: 7 Cov.: 33 AF XY: 0.000191 AC XY: 137AN XY: 718620
GnomAD4 genome AF: 0.000296 AC: 45AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.000282 AC XY: 21AN XY: 74426
ClinVar
Submissions by phenotype
not provided Benign:1
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DGKQ-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at