rs17429
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004135.4(IDH3G):c.123+93G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000885 in 113,025 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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_004135.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IDH3G | NM_004135.4 | c.123+93G>T | intron_variant | ENST00000217901.10 | |||
IDH3G | NM_174869.3 | c.123+93G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDH3G | ENST00000217901.10 | c.123+93G>T | intron_variant | 1 | NM_004135.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000885 AC: 1AN: 113025Hom.: 0 Cov.: 25 AF XY: 0.0000284 AC XY: 1AN XY: 35171
GnomAD4 exome Cov.: 18
GnomAD4 genome ? AF: 0.00000885 AC: 1AN: 113025Hom.: 0 Cov.: 25 AF XY: 0.0000284 AC XY: 1AN XY: 35171
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at