4-99204929-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001102470.2(ADH6):āc.1099A>Cā(p.Lys367Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000373 in 1,606,610 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001102470.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.1099A>C | p.Lys367Gln | missense_variant | Exon 8 of 9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.1099A>C | p.Lys367Gln | missense_variant | Exon 8 of 8 | NP_000663.1 | ||
ADH6 | NR_132990.2 | n.834A>C | non_coding_transcript_exon_variant | Exon 6 of 7 | ||||
LOC100507053 | NR_037884.1 | n.3789+498T>G | intron_variant | Intron 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000327 AC: 8AN: 244696Hom.: 0 AF XY: 0.0000227 AC XY: 3AN XY: 132174
GnomAD4 exome AF: 0.0000344 AC: 50AN: 1454470Hom.: 0 Cov.: 32 AF XY: 0.0000290 AC XY: 21AN XY: 723148
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1099A>C (p.K367Q) alteration is located in exon 8 (coding exon 8) of the ADH6 gene. This alteration results from a A to C substitution at nucleotide position 1099, causing the lysine (K) at amino acid position 367 to be replaced by a glutamine (Q). 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