rs17561
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000575.5(IL1A):c.340G>T(p.Ala114Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.257 in 151936 control chromosomes in the gnomAD Genomes database, including 5326 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000575.5 missense
Scores
Clinical Significance
Conservation
Links
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL1A | NM_000575.5 | c.340G>T | p.Ala114Ser | missense_variant | 5/7 | ENST00000263339.4 | |
IL1A | NM_001371554.1 | c.340G>T | p.Ala114Ser | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL1A | ENST00000263339.4 | c.340G>T | p.Ala114Ser | missense_variant | 5/7 | 1 | NM_000575.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.257 AC: 39015AN: 151936Hom.: 5326 Cov.: 32
GnomAD3 exomes AF: 0.270 AC: 67603AN: 250734Hom.: 9650 AF XY: 0.275 AC XY: 37261AN XY: 135534
GnomAD4 exome AF: 0.290 AC: 421059AN: 1452046Hom.: 62644 AF XY: 0.291 AC XY: 210151AN XY: 720964
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at