4-99131745-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000670.5(ADH4):c.602G>A(p.Cys201Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,708 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_000670.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH4 | NM_000670.5 | c.602G>A | p.Cys201Tyr | missense_variant | Exon 6 of 9 | ENST00000265512.12 | NP_000661.2 | |
ADH4 | NM_001306171.2 | c.659G>A | p.Cys220Tyr | missense_variant | Exon 7 of 10 | NP_001293100.1 | ||
ADH4 | NM_001306172.2 | c.659G>A | p.Cys220Tyr | missense_variant | Exon 7 of 10 | NP_001293101.1 | ||
LOC100507053 | NR_037884.1 | n.429-1810C>T | intron_variant | Intron 1 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 250790Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135552
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461708Hom.: 0 Cov.: 36 AF XY: 0.00000275 AC XY: 2AN XY: 727156
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.602G>A (p.C201Y) alteration is located in exon 6 (coding exon 6) of the ADH4 gene. This alteration results from a G to A substitution at nucleotide position 602, causing the cysteine (C) at amino acid position 201 to be replaced by a tyrosine (Y). 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