ENST00000359785.10:c.2242A>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000359785.10(PTPN22):āc.2242A>Gā(p.Arg748Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000546 in 1,586,510 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000359785.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTPN22 | NM_015967.8 | c.2242A>G | p.Arg748Gly | missense_variant | Exon 18 of 21 | NP_057051.4 | ||
PTPN22 | NM_001308297.2 | c.2170A>G | p.Arg724Gly | missense_variant | Exon 17 of 20 | NP_001295226.2 | ||
PTPN22 | NM_001193431.3 | c.2158A>G | p.Arg720Gly | missense_variant | Exon 18 of 21 | NP_001180360.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTPN22 | ENST00000359785.10 | c.2242A>G | p.Arg748Gly | missense_variant | Exon 18 of 21 | 1 | ENSP00000352833.5 |
Frequencies
GnomAD3 genomes AF: 0.000414 AC: 63AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000645 AC: 157AN: 243374Hom.: 1 AF XY: 0.000538 AC XY: 71AN XY: 131978
GnomAD4 exome AF: 0.000560 AC: 803AN: 1434290Hom.: 1 Cov.: 28 AF XY: 0.000509 AC XY: 364AN XY: 714946
GnomAD4 genome AF: 0.000414 AC: 63AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.000390 AC XY: 29AN XY: 74442
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at