rs1693482
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_000669.5(ADH1C):c.815G>A(p.Arg272Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.38 in 1,612,334 control chromosomes in the GnomAD database, including 124,558 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as protective (no stars).
Frequency
Consequence
NM_000669.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADH1C | NM_000669.5 | c.815G>A | p.Arg272Gln | missense_variant | 6/9 | ENST00000515683.6 | |
ADH1C | NR_133005.2 | n.855+31G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADH1C | ENST00000515683.6 | c.815G>A | p.Arg272Gln | missense_variant | 6/9 | 1 | NM_000669.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.312 AC: 47499AN: 152058Hom.: 8863 Cov.: 33
GnomAD3 exomes AF: 0.345 AC: 86408AN: 250778Hom.: 16724 AF XY: 0.348 AC XY: 47165AN XY: 135564
GnomAD4 exome AF: 0.388 AC: 565821AN: 1460158Hom.: 115688 Cov.: 74 AF XY: 0.384 AC XY: 279183AN XY: 726466
GnomAD4 genome ? AF: 0.312 AC: 47519AN: 152176Hom.: 8870 Cov.: 33 AF XY: 0.313 AC XY: 23285AN XY: 74400
ClinVar
Submissions by phenotype
Alcohol dependence Benign:1
protective, no assertion criteria provided | literature only | OMIM | Jun 01, 2008 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at