chr4-961208-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001347.4(DGKQ):c.2575-7G>A variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0001 in 1,542,294 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001347.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DGKQ | NM_001347.4 | c.2575-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000273814.8 | NP_001338.2 | |||
DGKQ | XM_011513411.2 | c.2575-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | XP_011511713.1 | ||||
DGKQ | XM_047449687.1 | c.2662-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | XP_047305643.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DGKQ | ENST00000273814.8 | c.2575-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001347.4 | ENSP00000273814 | P1 | |||
DGKQ | ENST00000509465.5 | c.2376-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | ENSP00000425862 | |||||
DGKQ | ENST00000515182.1 | c.220-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | ENSP00000421756 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152056Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000750 AC: 13AN: 173436Hom.: 0 AF XY: 0.0000953 AC XY: 9AN XY: 94452
GnomAD4 exome AF: 0.000106 AC: 148AN: 1390122Hom.: 0 Cov.: 34 AF XY: 0.0000948 AC XY: 65AN XY: 685736
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152172Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74384
ClinVar
Submissions by phenotype
DGKQ-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 11, 2019 | This variant is classified as likely 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