chr19-17841540-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000215.4(JAK3):c.991G>A(p.Glu331Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000566 in 1,590,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Synonymous variant affecting the same amino acid position (i.e. E331E) has been classified as Likely benign.
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 | UniProt |
---|---|---|---|---|---|---|---|
JAK3 | NM_000215.4 | c.991G>A | p.Glu331Lys | missense_variant | 8/24 | ENST00000458235.7 | |
JAK3 | XM_047438786.1 | c.991G>A | p.Glu331Lys | missense_variant | 8/24 | ||
JAK3 | XM_011527991.3 | c.991G>A | p.Glu331Lys | missense_variant | 8/14 | ||
JAK3 | XR_007066796.1 | n.1041G>A | non_coding_transcript_exon_variant | 8/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
JAK3 | ENST00000458235.7 | c.991G>A | p.Glu331Lys | missense_variant | 8/24 | 5 | NM_000215.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000145 AC: 3AN: 206990Hom.: 0 AF XY: 0.0000178 AC XY: 2AN XY: 112274
GnomAD4 exome AF: 0.00000556 AC: 8AN: 1438648Hom.: 0 Cov.: 35 AF XY: 0.00000700 AC XY: 5AN XY: 713874
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74410
ClinVar
Submissions by phenotype
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at