4-99213651-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001102470.2(ADH6):c.217G>A(p.Gly73Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,613,612 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001102470.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH6 | NM_001102470.2 | c.217G>A | p.Gly73Arg | missense_variant | Exon 3 of 9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.217G>A | p.Gly73Arg | missense_variant | Exon 3 of 8 | NP_000663.1 | ||
LOC100507053 | NR_037884.1 | n.3789+9220C>T | intron_variant | Intron 4 of 9 | ||||
ADH6 | NR_132990.2 | n.214+2510G>A | intron_variant | Intron 2 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251056Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135686
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461536Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727068
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.217G>A (p.G73R) alteration is located in exon 3 (coding exon 3) of the ADH6 gene. This alteration results from a G to A substitution at nucleotide position 217, causing the glycine (G) at amino acid position 73 to be replaced by an arginine (R). 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