NM_000576.3:c.315C>T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_000576.3(IL1B):c.315C>T(p.Phe105Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.218 in 1,613,312 control chromosomes in the GnomAD database, including 40,737 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign,Affects,association,other (no stars).
Frequency
Consequence
NM_000576.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.192 AC: 29258AN: 152020Hom.: 3053 Cov.: 32
GnomAD3 exomes AF: 0.192 AC: 48238AN: 251472Hom.: 5342 AF XY: 0.197 AC XY: 26721AN XY: 135910
GnomAD4 exome AF: 0.221 AC: 323017AN: 1461174Hom.: 37679 Cov.: 34 AF XY: 0.221 AC XY: 160625AN XY: 726932
GnomAD4 genome AF: 0.192 AC: 29277AN: 152138Hom.: 3058 Cov.: 32 AF XY: 0.191 AC XY: 14216AN XY: 74384
ClinVar
Submissions by phenotype
IL1B-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Antisynthetase syndrome Other:1
- -
Endometriosis Other:1
Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk. -
Cholangiocarcinoma Other:1
C/C genotype associated with significantly shorter OS after surgical resection of intrahepatic CCA C/C genotype associated with shorter overall survival
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at