4-99076847-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000671.4(ADH5):āc.421A>Gā(p.Met141Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000849 in 1,613,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000671.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000683 AC: 17AN: 248944Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135080
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461652Hom.: 0 Cov.: 32 AF XY: 0.0000701 AC XY: 51AN XY: 727100
GnomAD4 genome AF: 0.000105 AC: 16AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.421A>G (p.M141V) alteration is located in exon 5 (coding exon 5) of the ADH5 gene. This alteration results from a A to G substitution at nucleotide position 421, causing the methionine (M) at amino acid position 141 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at