1-154405680-A-G
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_000565.4(IL6R):āc.51A>Gā(p.Gly17Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00384 in 1,528,286 control chromosomes in the GnomAD database, including 23 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_000565.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00274 AC: 417AN: 152036Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00348 AC: 430AN: 123670Hom.: 1 AF XY: 0.00321 AC XY: 219AN XY: 68204
GnomAD4 exome AF: 0.00396 AC: 5449AN: 1376136Hom.: 22 Cov.: 32 AF XY: 0.00383 AC XY: 2603AN XY: 679126
GnomAD4 genome AF: 0.00274 AC: 417AN: 152150Hom.: 1 Cov.: 32 AF XY: 0.00259 AC XY: 193AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:3
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IL6R: BP4, BP7, BS2 -
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IL6R-related disorder Benign:1
This variant is classified as likely 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