rs12545877
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002164.6(IDO1):c.314G>A(p.Arg105Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 146,258 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002164.6 missense
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 |
---|---|---|---|---|---|---|---|
IDO1 | NM_002164.6 | c.314G>A | p.Arg105Lys | missense_variant | 4/10 | ENST00000518237.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDO1 | ENST00000518237.6 | c.314G>A | p.Arg105Lys | missense_variant | 4/10 | 1 | NM_002164.6 | P1 | |
ENST00000517623.1 | n.256-14804C>T | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000522970.1 | n.257-401C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000684 AC: 1AN: 146212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248930Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135062
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1445904Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 720398
GnomAD4 genome ? AF: 0.00000684 AC: 1AN: 146258Hom.: 0 Cov.: 32 AF XY: 0.0000141 AC XY: 1AN XY: 70970
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at