rs1373998
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002184.4(IL6ST):c.973+665C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.154 in 751,860 control chromosomes in the GnomAD database, including 13,757 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002184.4 intron
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: 0.240 AC: 36548AN: 151984Hom.: 6894 Cov.: 32
GnomAD4 exome AF: 0.132 AC: 79253AN: 599758Hom.: 6841 AF XY: 0.128 AC XY: 40219AN XY: 313122
GnomAD4 genome AF: 0.241 AC: 36625AN: 152102Hom.: 6916 Cov.: 32 AF XY: 0.233 AC XY: 17360AN XY: 74362
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 23. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at