chr4-99427978-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000673.7(ADH7):c.359G>A(p.Arg120His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00227 in 1,613,864 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000673.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADH7 | NM_000673.7 | c.359G>A | p.Arg120His | missense_variant | 5/9 | ENST00000437033.7 | |
ADH7 | NM_001166504.2 | c.419G>A | p.Arg140His | missense_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADH7 | ENST00000437033.7 | c.359G>A | p.Arg120His | missense_variant | 5/9 | 1 | NM_000673.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00155 AC: 235AN: 152100Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00119 AC: 299AN: 251070Hom.: 2 AF XY: 0.00116 AC XY: 158AN XY: 135676
GnomAD4 exome AF: 0.00235 AC: 3432AN: 1461646Hom.: 7 Cov.: 32 AF XY: 0.00228 AC XY: 1656AN XY: 727122
GnomAD4 genome ? AF: 0.00154 AC: 235AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.00155 AC XY: 115AN XY: 74426
ClinVar
Submissions by phenotype
ADH7-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 10, 2021 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at