19-54803914-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080770.2(KIR2DL4):c.64T>A(p.Trp22Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/18 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_001080770.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIR2DL4 | NM_001080770.2 | c.64T>A | p.Trp22Arg | missense_variant | Exon 2 of 7 | ENST00000345540.10 | NP_001074239.1 | |
KIR2DL4 | NM_001080772.2 | c.64T>A | p.Trp22Arg | missense_variant | Exon 2 of 8 | NP_001074241.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at