rs143586866
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000215.4(JAK3):āc.362G>Cā(p.Arg121Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,447,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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_000215.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
JAK3 | NM_000215.4 | c.362G>C | p.Arg121Pro | missense_variant | 4/24 | ENST00000458235.7 | NP_000206.2 | |
JAK3 | XM_047438786.1 | c.362G>C | p.Arg121Pro | missense_variant | 4/24 | XP_047294742.1 | ||
JAK3 | XM_011527991.3 | c.362G>C | p.Arg121Pro | missense_variant | 4/14 | XP_011526293.2 | ||
JAK3 | XR_007066796.1 | n.412G>C | non_coding_transcript_exon_variant | 4/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
JAK3 | ENST00000458235.7 | c.362G>C | p.Arg121Pro | missense_variant | 4/24 | 5 | NM_000215.4 | ENSP00000391676 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000440 AC: 1AN: 227166Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 123464
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1447616Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 719122
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at