rs20541
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PM2_SupportingBP4_Strong
The NM_002188(IL13):c.431A>C(p.Gln144Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 13/18 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. Q144R) has been classified as Uncertain significance.
Frequency
Consequence
NM_002188 missense
Scores
Clinical Significance
Conservation
Links
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL13 | NM_002188.3 | c.431A>C | p.Gln144Pro | missense_variant | 4/4 | ENST00000304506.7 | |
IL13 | NM_001354991.2 | c.236A>C | p.Gln79Pro | missense_variant | 5/5 | ||
IL13 | NM_001354992.2 | c.236A>C | p.Gln79Pro | missense_variant | 6/6 | ||
IL13 | NM_001354993.2 | c.236A>C | p.Gln79Pro | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL13 | ENST00000304506.7 | c.431A>C | p.Gln144Pro | missense_variant | 4/4 | 1 | NM_002188.3 | P1 | |
TH2LCRR | ENST00000435042.1 | n.94+3907T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomesCov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at