rs3093026
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000642778.1(ENSG00000284825):n.183G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.436 in 152,190 control chromosomes in the GnomAD database, including 14,969 homozygotes. 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCR6 | NM_004367.6 | c.-98+7188C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000642778.1 | n.183G>A | non_coding_transcript_exon_variant | 2/4 | ||||||
CCR6 | ENST00000400926.5 | c.-98+7188C>T | intron_variant | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.436 AC: 66148AN: 151862Hom.: 14922 Cov.: 32
GnomAD4 exome AF: 0.458 AC: 97AN: 212Hom.: 23 Cov.: 0 AF XY: 0.444 AC XY: 48AN XY: 108
GnomAD4 genome ? AF: 0.436 AC: 66221AN: 151978Hom.: 14946 Cov.: 32 AF XY: 0.435 AC XY: 32331AN XY: 74274
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at