rs4143304
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP7BA1
The NM_001013742.4(DGKK):c.1104G>A(p.Leu368=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.343 in 1,205,775 control chromosomes in the GnomAD database, including 55,779 homozygotes. There are 131,076 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001013742.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DGKK | NM_001013742.4 | c.1104G>A | p.Leu368= | synonymous_variant | 6/28 | ENST00000611977.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DGKK | ENST00000611977.2 | c.1104G>A | p.Leu368= | synonymous_variant | 6/28 | 1 | NM_001013742.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.466 AC: 51181AN: 109901Hom.: 10509 Cov.: 22 AF XY: 0.446 AC XY: 14346AN XY: 32197
GnomAD3 exomes AF: 0.383 AC: 69047AN: 180430Hom.: 10993 AF XY: 0.351 AC XY: 23357AN XY: 66522
GnomAD4 exome AF: 0.330 AC: 361971AN: 1095823Hom.: 45261 Cov.: 30 AF XY: 0.322 AC XY: 116682AN XY: 361949
GnomAD4 genome ? AF: 0.466 AC: 51245AN: 109952Hom.: 10518 Cov.: 22 AF XY: 0.446 AC XY: 14394AN XY: 32258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at