1-154429203-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000565.4(IL6R):c.93G>A(p.Ala31Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.15 in 1,610,256 control chromosomes in the GnomAD database, including 18,943 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000565.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL6R | ENST00000368485.8 | c.93G>A | p.Ala31Ala | synonymous_variant | Exon 2 of 10 | 1 | NM_000565.4 | ENSP00000357470.3 | ||
IL6R | ENST00000344086.8 | c.93G>A | p.Ala31Ala | synonymous_variant | Exon 2 of 9 | 1 | ENSP00000340589.4 | |||
IL6R | ENST00000622330.5 | c.93G>A | p.Ala31Ala | synonymous_variant | Exon 2 of 7 | 1 | ENSP00000477739.1 | |||
IL6R | ENST00000512471.1 | c.93G>A | p.Ala31Ala | synonymous_variant | Exon 2 of 4 | 4 | ENSP00000423184.1 |
Frequencies
GnomAD3 genomes AF: 0.128 AC: 19471AN: 151990Hom.: 1436 Cov.: 31
GnomAD3 exomes AF: 0.139 AC: 34830AN: 250842Hom.: 2700 AF XY: 0.141 AC XY: 19133AN XY: 135578
GnomAD4 exome AF: 0.152 AC: 222252AN: 1458148Hom.: 17504 Cov.: 33 AF XY: 0.152 AC XY: 110365AN XY: 724486
GnomAD4 genome AF: 0.128 AC: 19480AN: 152108Hom.: 1439 Cov.: 31 AF XY: 0.128 AC XY: 9508AN XY: 74358
ClinVar
Submissions by phenotype
not provided Benign:2
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IL6R-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at