4-99085122-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000671.4(ADH5):c.107G>A(p.Arg36Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000772 in 1,501,698 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 (★).
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: 0.0000526 AC: 8AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000846 AC: 13AN: 153592Hom.: 0 AF XY: 0.000109 AC XY: 9AN XY: 82574
GnomAD4 exome AF: 0.0000800 AC: 108AN: 1349428Hom.: 0 Cov.: 28 AF XY: 0.0000691 AC XY: 46AN XY: 665666
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152270Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.107G>A (p.R36Q) alteration is located in exon 2 (coding exon 2) of the ADH5 gene. This alteration results from a G to A substitution at nucleotide position 107, causing the arginine (R) at amino acid position 36 to be replaced by a glutamine (Q). 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