rs781997631
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_000202.8(IDS):āc.191T>Cā(p.Ile64Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I64N) has been classified as Pathogenic.
Frequency
Consequence
NM_000202.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IDS | NM_000202.8 | c.191T>C | p.Ile64Thr | missense_variant | 2/9 | ENST00000340855.11 | |
IDS | NM_006123.5 | c.191T>C | p.Ile64Thr | missense_variant | 2/8 | ||
IDS | NM_001166550.4 | c.-36T>C | 5_prime_UTR_variant | 2/9 | |||
IDS | NR_104128.2 | n.360T>C | non_coding_transcript_exon_variant | 2/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDS | ENST00000340855.11 | c.191T>C | p.Ile64Thr | missense_variant | 2/9 | 1 | NM_000202.8 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD3 exomes AF: 0.00000561 AC: 1AN: 178358Hom.: 0 AF XY: 0.0000158 AC XY: 1AN XY: 63110
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.13e-7 AC: 1AN: 1095416Hom.: 0 Cov.: 29 AF XY: 0.00000277 AC XY: 1AN XY: 360912
GnomAD4 genome ? Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at