3-49026331-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000884.3(IMPDH2):c.999G>T(p.Thr333=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,454,184 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000884.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IMPDH2 | NM_000884.3 | c.999G>T | p.Thr333= | synonymous_variant | 9/14 | ENST00000326739.9 | |
IMPDH2 | NM_001410759.1 | c.999G>T | p.Thr333= | synonymous_variant | 9/15 | ||
IMPDH2 | NM_001410760.1 | c.924G>T | p.Thr308= | synonymous_variant | 8/14 | ||
IMPDH2 | NM_001410761.1 | c.924G>T | p.Thr308= | synonymous_variant | 8/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IMPDH2 | ENST00000326739.9 | c.999G>T | p.Thr333= | synonymous_variant | 9/14 | 1 | NM_000884.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245834Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132882
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1454184Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 723412
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at