NM_000202.8(IDS):c.922G>C (p.Asp308His) AND Mucopolysaccharidosis, MPS-II

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001375842.1

Allele description [Variation Report for NM_000202.8(IDS):c.922G>C (p.Asp308His)]

NM_000202.8(IDS):c.922G>C (p.Asp308His)

Genes:

LOC106050102:IDS recombination region [Gene]
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.922G>C (p.Asp308His)

HGVS:

NC_000023.11:g.149490398C>G
NG_011900.3:g.19937G>C
NG_042264.1:g.3753C>G
NM_000202.8:c.922G>CMANE SELECT
NM_001166550.4:c.652G>C
NM_006123.5:c.922G>C
NP_000193.1:p.Asp308His
NP_001160022.1:p.Asp218His
NP_006114.1:p.Asp308His
NC_000023.10:g.148571929C>G
NR_104128.2:n.1221G>C

Protein change:

D218H

Links:

dbSNP: rs2124020573

NCBI 1000 Genomes Browser:

rs2124020573

Molecular consequence:

NM_000202.8:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001166550.4:c.652G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006123.5:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104128.2:n.1221G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:: Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001572614	Pediatrics, All India Institute of Medical Sciences, New Delhi	no assertion criteria provided	Likely pathogenic (Jun 1, 2014)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001572614

Pediatrics, All India Institute of Medical Sciences, New Delhi

no assertion criteria provided

Likely pathogenic
(Jun 1, 2014)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
INDIAN	germline	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Pediatrics, All India Institute of Medical Sciences, New Delhi, SCV001572614.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	INDIAN	1	not provided	not provided	research	not provided

Description

The missense variation, c.922G>C (p.D308H) was detected in the study. The functional assessment was performed via different web tools, viz., mutation assessor, Polyphen2, SIFT, HANSA. The score inferred by the tools for this variation was are clearly suggestive of the pathogenic effect of the residues. The aspartic acid residue at position 308 is conserved among H.sapiens, M.mulatta, F.catus, G.gallus, M.musculus, T.rubripes, D.rerio, D.melanogaster and X.tropicalis (Mutation Taster). High degree of evolutionary conservation and any substitution of this residue at the same position is expected to cause deleterious outcome on the protein. Polyphen2 and mutation assessor also confirmed the conserved nature of the residue.

Description

The change c.922G>C (p.D308H) was a missense variant, where the acidic polar negative amino acid Aspartic acid at 333 position was substituted by aromatic basic polar amino acid Histidine. It was detected in a hemizygous state in one male patient with sever phenotype from New Delhi, India.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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