4-99207473-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001102470.2(ADH6):c.937C>T(p.Arg313Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,613,214 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH6 | NM_001102470.2 | c.937C>T | p.Arg313Cys | missense_variant | Exon 7 of 9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.937C>T | p.Arg313Cys | missense_variant | Exon 7 of 8 | NP_000663.1 | ||
ADH6 | NR_132990.2 | n.672C>T | non_coding_transcript_exon_variant | Exon 5 of 7 | ||||
LOC100507053 | NR_037884.1 | n.3789+3042G>A | intron_variant | Intron 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151878Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251348Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135852
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461336Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727002
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151878Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74138
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.937C>T (p.R313C) alteration is located in exon 7 (coding exon 7) of the ADH6 gene. This alteration results from a C to T substitution at nucleotide position 937, causing the arginine (R) at amino acid position 313 to be replaced by a cysteine (C). 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