4-99207578-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001102470.2(ADH6):c.832G>A(p.Ala278Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
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.832G>A | p.Ala278Thr | missense_variant | Exon 7 of 9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.832G>A | p.Ala278Thr | missense_variant | Exon 7 of 8 | NP_000663.1 | ||
ADH6 | NR_132990.2 | n.567G>A | non_coding_transcript_exon_variant | Exon 5 of 7 | ||||
LOC100507053 | NR_037884.1 | n.3789+3147C>T | intron_variant | Intron 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.832G>A (p.A278T) alteration is located in exon 7 (coding exon 7) of the ADH6 gene. This alteration results from a G to A substitution at nucleotide position 832, causing the alanine (A) at amino acid position 278 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.