4-99076804-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000671.4(ADH5):āc.464T>Cā(p.Ile155Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000198 in 1,613,914 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: 0.0000591 AC: 9AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000562 AC: 14AN: 249126Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135164
GnomAD4 exome AF: 0.000213 AC: 311AN: 1461680Hom.: 0 Cov.: 32 AF XY: 0.000194 AC XY: 141AN XY: 727124
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.464T>C (p.I155T) alteration is located in exon 5 (coding exon 5) of the ADH5 gene. This alteration results from a T to C substitution at nucleotide position 464, causing the isoleucine (I) at amino acid position 155 to be replaced by a threonine (T). 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