4-99075057-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_000671.4(ADH5):c.826-8G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000496 in 1,594,518 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000671.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152100Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000181 AC: 43AN: 237694Hom.: 0 AF XY: 0.000202 AC XY: 26AN XY: 128892
GnomAD4 exome AF: 0.000518 AC: 747AN: 1442418Hom.: 1 Cov.: 30 AF XY: 0.000543 AC XY: 389AN XY: 716904
GnomAD4 genome AF: 0.000289 AC: 44AN: 152100Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74286
ClinVar
Submissions by phenotype
not provided Benign:1
ADH5: BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at