rs148534811
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001102470.2(ADH6):āc.841G>Cā(p.Ala281Pro) 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 1,461,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH6 | NM_001102470.2 | c.841G>C | p.Ala281Pro | missense_variant | Exon 7 of 9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.841G>C | p.Ala281Pro | missense_variant | Exon 7 of 8 | NP_000663.1 | ||
ADH6 | NR_132990.2 | n.576G>C | non_coding_transcript_exon_variant | Exon 5 of 7 | ||||
LOC100507053 | NR_037884.1 | n.3789+3138C>G | intron_variant | Intron 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461050Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726816
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.