rs2069829
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_131935.1(IL6-AS1):n.54-305G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000946 in 549,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NR_131935.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL6-AS1 | NR_131935.1 | n.54-305G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL6-AS1 | ENST00000325042.2 | n.54-305G>A | intron_variant, non_coding_transcript_variant | 1 | ||||||
IL6 | ENST00000404625.5 | c.-84-169C>T | intron_variant | 5 | ENSP00000385675 | P1 | ||||
STEAP1B | ENST00000650428.1 | n.46+558G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152088Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000201 AC: 8AN: 397312Hom.: 0 AF XY: 0.0000192 AC XY: 4AN XY: 208612
GnomAD4 genome AF: 0.000289 AC: 44AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74420
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at