4-99088692-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000671.4(ADH5):āc.9C>Gā(p.Asn3Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,606,750 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151756Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000819 AC: 2AN: 244152Hom.: 0 AF XY: 0.00000752 AC XY: 1AN XY: 132966
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1454994Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 723810
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151756Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74104
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at