rs202021264
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP2BP4_StrongBP6_ModerateBS2
The NM_002227.4(JAK1):āc.184A>Gā(p.Ile62Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000483 in 1,614,016 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_002227.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
JAK1 | NM_002227.4 | c.184A>G | p.Ile62Val | missense_variant | 3/25 | ENST00000342505.5 | NP_002218.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
JAK1 | ENST00000342505.5 | c.184A>G | p.Ile62Val | missense_variant | 3/25 | 5 | NM_002227.4 | ENSP00000343204.4 |
Frequencies
GnomAD3 genomes AF: 0.000427 AC: 65AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000725 AC: 180AN: 248442Hom.: 1 AF XY: 0.000675 AC XY: 91AN XY: 134808
GnomAD4 exome AF: 0.000489 AC: 715AN: 1461692Hom.: 2 Cov.: 31 AF XY: 0.000481 AC XY: 350AN XY: 727124
GnomAD4 genome AF: 0.000427 AC: 65AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74496
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 13, 2023 | - - |
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