NM_005535.3:c.1972T>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005535.3(IL12RB1):āc.1972T>Gā(p.Cys658Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000677 in 147,654 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C658R) has been classified as Uncertain significance.
Frequency
Consequence
NM_005535.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL12RB1 | ENST00000593993.7 | c.1972T>G | p.Cys658Gly | missense_variant | Exon 16 of 17 | 1 | NM_005535.3 | ENSP00000472165.2 | ||
IL12RB1 | ENST00000600835.6 | c.1972T>G | p.Cys658Gly | missense_variant | Exon 17 of 18 | 1 | ENSP00000470788.1 |
Frequencies
GnomAD3 genomes AF: 0.00000677 AC: 1AN: 147654Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000677 AC: 1AN: 147654Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 71924
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.