chrX-149503429-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP3BP4BS1_SupportingBS2
The NM_000202.8(IDS):c.301C>T(p.Arg101Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000541 in 110,831 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IDS | NM_000202.8 | c.301C>T | p.Arg101Cys | missense_variant | Exon 3 of 9 | ENST00000340855.11 | NP_000193.1 | |
IDS | NM_001166550.4 | c.31C>T | p.Arg11Cys | missense_variant | Exon 3 of 9 | NP_001160022.1 | ||
IDS | NM_006123.5 | c.301C>T | p.Arg101Cys | missense_variant | Exon 3 of 8 | NP_006114.1 | ||
IDS | NR_104128.2 | n.470C>T | non_coding_transcript_exon_variant | Exon 3 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000542 AC: 6AN: 110779Hom.: 0 Cov.: 22 AF XY: 0.000121 AC XY: 4AN XY: 32995
GnomAD3 exomes AF: 0.0000892 AC: 11AN: 123343Hom.: 0 AF XY: 0.000125 AC XY: 5AN XY: 39865
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000196 AC: 21AN: 1072704Hom.: 0 Cov.: 28 AF XY: 0.0000174 AC XY: 6AN XY: 345262
GnomAD4 genome AF: 0.0000541 AC: 6AN: 110831Hom.: 0 Cov.: 22 AF XY: 0.000121 AC XY: 4AN XY: 33057
ClinVar
Submissions by phenotype
Mucopolysaccharidosis, MPS-II Pathogenic:1Uncertain:2Benign:1
- -
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), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong) -
- -
- -
not provided Uncertain:1
- -
Mucopolysaccharidosis, MPS-III-A Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at