Canonical Allele Identifier: CA160213
Gene: JAK3 HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition T-B+ severe combined immunodeficiency due to JAK3 deficiency
VCEP Severe Combined Immunodeficiency Disease VCEP
BRCA Exchange:
Summary View CA16021323
Pop AF ACMG Code (provisional) PM2_Supporting (met)
MyVariant.info:
GRCh38 chr19:g.17835995G>A
GRCh37 chr19:g.17946804G>A
Revel Score:
ENST00000458235 (MANE Select) 0.155
ENST00000527670 0.155
ENST00000534444 0.155
gnomAD v2:
19:17946804 G / A
gnomAD v3:
19:17835995 G / A
gnomAD v4:
chr19-17835995-G-A
Joint Max Group AF 0.0054508 (SAS)
Genomes Max Group AF 0.00412175 (SAS)
Exomes Max Group AF 0.00544335 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17835995G>A , CM000681.2:g.17835995G>A GRCh38
NC_000019.9:g.17946804G>A , CM000681.1:g.17946804G>A GRCh37
NC_000019.8:g.17807804G>A NCBI36
NG_007273.1:g.16997C>T , LRG_77:g.16997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*400C>T ENSP00000513006.1:n.*400C>T
ENST00000696967.1:n.1020C>T
ENST00000696970.1:n.498C>T
ENST00000458235.7:c.1843C>T MANE Select ENSP00000391676.1:p.Arg615Cys
ENST00000458235.5:c.1843C>T ENSP00000391676.1:p.Arg615Cys
ENST00000527031.5:n.2278+732C>T
ENST00000527670.5:c.1843C>T ENSP00000432511.1:p.Arg615Cys
ENST00000534444.1:c.1843C>T ENSP00000436421.1:p.Arg615Cys
NM_000215.3:c.1843C>T , LRG_77t1:c.1843C>T NP_000206.2:p.Arg615Cys
XM_005259896.2:c.1972C>T XP_005259953.1:p.Arg658Cys
XM_006722745.2:c.1843C>T XP_006722808.1:p.Arg615Cys
XM_011527990.1:c.1972C>T XP_011526292.1:p.Arg658Cys
XR_430137.2:n.1982C>T
XM_005259896.3:c.1972C>T XP_005259953.1:p.Arg658Cys
XM_011527991.2:c.*922C>T XP_011526293.1:n.*922C>T
NM_000215.4:c.1843C>T MANE Select NP_000206.2:p.Arg615Cys
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