rs1126671
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000670.5(ADH4):āc.925A>Gā(p.Ile309Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.722 in 1,610,424 control chromosomes in the GnomAD database, including 423,736 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000670.5 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH4 | NM_000670.5 | c.925A>G | p.Ile309Val | missense_variant | 7/9 | ENST00000265512.12 | NP_000661.2 | |
ADH4 | NM_001306171.2 | c.982A>G | p.Ile328Val | missense_variant | 8/10 | NP_001293100.1 | ||
ADH4 | NM_001306172.2 | c.982A>G | p.Ile328Val | missense_variant | 8/10 | NP_001293101.1 | ||
LOC100507053 | NR_037884.1 | n.429-6292T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADH4 | ENST00000265512.12 | c.925A>G | p.Ile309Val | missense_variant | 7/9 | 1 | NM_000670.5 | ENSP00000265512.7 |
Frequencies
GnomAD3 genomes AF: 0.749 AC: 113627AN: 151784Hom.: 43071 Cov.: 31
GnomAD3 exomes AF: 0.757 AC: 188734AN: 249482Hom.: 72686 AF XY: 0.754 AC XY: 101762AN XY: 134874
GnomAD4 exome AF: 0.719 AC: 1048776AN: 1458522Hom.: 380618 Cov.: 40 AF XY: 0.721 AC XY: 523529AN XY: 725678
GnomAD4 genome AF: 0.749 AC: 113735AN: 151902Hom.: 43118 Cov.: 31 AF XY: 0.757 AC XY: 56172AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at