X-71107747-GC-AA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000374202.7(IL2RG):c.1098_1099delinsTT(p.Lys366_Pro367delinsAsnSer) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. K366K) has been classified as Likely benign.
Frequency
Consequence
ENST00000374202.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL2RG | NM_000206.3 | c.1098_1099delinsTT | p.Lys366_Pro367delinsAsnSer | missense_variant | 8/8 | ENST00000374202.7 | NP_000197.1 | |
IL2RG | XM_047442089.1 | c.*218_*219delinsTT | 3_prime_UTR_variant | 7/7 | XP_047298045.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL2RG | ENST00000374202.7 | c.1098_1099delinsTT | p.Lys366_Pro367delinsAsnSer | missense_variant | 8/8 | 1 | NM_000206.3 | ENSP00000363318 | P1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
X-linked severe combined immunodeficiency Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Oct 14, 2021 | This variant, c.1098_1099delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the IL2RG protein (p.Lys366_Pro367delinsAsnSer). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals affected with IL2RG-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.