rs7880291
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000206.3(IL2RG):c.115+187C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000295 in 712,445 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. 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
NM_000206.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL2RG | NM_000206.3 | c.115+187C>G | intron_variant | ENST00000374202.7 | |||
IL2RG | XM_047442089.1 | c.115+187C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL2RG | ENST00000374202.7 | c.115+187C>G | intron_variant | 1 | NM_000206.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000304 AC: 3AN: 98814Hom.: 0 Cov.: 22 AF XY: 0.0000393 AC XY: 1AN XY: 25448
GnomAD4 exome AF: 0.0000293 AC: 18AN: 613631Hom.: 0 Cov.: 9 AF XY: 0.0000185 AC XY: 3AN XY: 162279
GnomAD4 genome ? AF: 0.0000304 AC: 3AN: 98814Hom.: 0 Cov.: 22 AF XY: 0.0000393 AC XY: 1AN XY: 25448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at