chrX-149500989-G-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_000202.8(IDS):c.467C>A(p.Pro156Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00135 in 1,179,632 control chromosomes in the GnomAD database, including 10 homozygotes. There are 429 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000202.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IDS | NM_000202.8 | c.467C>A | p.Pro156Gln | missense_variant | Exon 4 of 9 | ENST00000340855.11 | NP_000193.1 | |
IDS | NM_001166550.4 | c.197C>A | p.Pro66Gln | missense_variant | Exon 4 of 9 | NP_001160022.1 | ||
IDS | NM_006123.5 | c.467C>A | p.Pro156Gln | missense_variant | Exon 4 of 8 | NP_006114.1 | ||
IDS | NR_104128.2 | n.636C>A | non_coding_transcript_exon_variant | Exon 4 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00761 AC: 845AN: 111065Hom.: 8 Cov.: 23 AF XY: 0.00685 AC XY: 228AN XY: 33303
GnomAD3 exomes AF: 0.00225 AC: 413AN: 183371Hom.: 5 AF XY: 0.00145 AC XY: 98AN XY: 67819
GnomAD4 exome AF: 0.000694 AC: 742AN: 1068517Hom.: 2 Cov.: 26 AF XY: 0.000585 AC XY: 198AN XY: 338725
GnomAD4 genome AF: 0.00763 AC: 848AN: 111115Hom.: 8 Cov.: 23 AF XY: 0.00692 AC XY: 231AN XY: 33363
ClinVar
Submissions by phenotype
Mucopolysaccharidosis, MPS-II Pathogenic:1Benign:1
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Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong) -
not provided Benign:2
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Mucopolysaccharidosis, MPS-III-A Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at