chr4-99204952-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001102470.2(ADH6):c.1076C>T(p.Ala359Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,456,750 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001102470.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH6 | NM_001102470.2 | c.1076C>T | p.Ala359Val | missense_variant | Exon 8 of 9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.1076C>T | p.Ala359Val | missense_variant | Exon 8 of 8 | NP_000663.1 | ||
ADH6 | NR_132990.2 | n.811C>T | non_coding_transcript_exon_variant | Exon 6 of 7 | ||||
LOC100507053 | NR_037884.1 | n.3789+521G>A | intron_variant | Intron 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246448Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133242
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1456750Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 724536
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at