10-1048910-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004508.4(IDI1):āc.94G>Cā(p.Gly32Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000066 in 1,605,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004508.4 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 |
---|---|---|---|---|---|---|---|
IDI1 | NM_004508.4 | c.94G>C | p.Gly32Arg | missense_variant | 1/5 | ENST00000381344.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDI1 | ENST00000381344.8 | c.94G>C | p.Gly32Arg | missense_variant | 1/5 | 1 | NM_004508.4 |
Frequencies
GnomAD3 genomes AF: 0.000315 AC: 48AN: 152212Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000530 AC: 12AN: 226290Hom.: 0 AF XY: 0.0000239 AC XY: 3AN XY: 125414
GnomAD4 exome AF: 0.0000399 AC: 58AN: 1453348Hom.: 0 Cov.: 31 AF XY: 0.0000304 AC XY: 22AN XY: 722998
GnomAD4 genome AF: 0.000315 AC: 48AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.000295 AC XY: 22AN XY: 74498
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at