4-99127320-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000670.5(ADH4):c.868G>A(p.Ala290Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000077 in 1,611,328 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000670.5 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 |
---|---|---|---|---|---|---|---|---|
ADH4 | NM_000670.5 | c.868G>A | p.Ala290Thr | missense_variant | Exon 7 of 9 | ENST00000265512.12 | NP_000661.2 | |
ADH4 | NM_001306171.2 | c.925G>A | p.Ala309Thr | missense_variant | Exon 8 of 10 | NP_001293100.1 | ||
ADH4 | NM_001306172.2 | c.925G>A | p.Ala309Thr | missense_variant | Exon 8 of 10 | NP_001293101.1 | ||
LOC100507053 | NR_037884.1 | n.429-6235C>T | intron_variant | Intron 1 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152100Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000881 AC: 22AN: 249638Hom.: 0 AF XY: 0.000119 AC XY: 16AN XY: 134990
GnomAD4 exome AF: 0.0000816 AC: 119AN: 1459110Hom.: 0 Cov.: 35 AF XY: 0.0000909 AC XY: 66AN XY: 725916
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74408
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.868G>A (p.A290T) alteration is located in exon 7 (coding exon 7) of the ADH4 gene. This alteration results from a G to A substitution at nucleotide position 868, causing the alanine (A) at amino acid position 290 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