NM_000202.8(IDS):c.248T>G (p.Val83Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000735294.2

Allele description [Variation Report for NM_000202.8(IDS):c.248T>G (p.Val83Gly)]

NM_000202.8(IDS):c.248T>G (p.Val83Gly)

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.248T>G (p.Val83Gly)

HGVS:

NC_000023.11:g.149503482A>C
NG_011900.3:g.6853T>G
NM_000202.8:c.248T>GMANE SELECT
NM_001166550.4:c.15-37T>G
NM_006123.5:c.248T>G
NP_000193.1:p.Val83Gly
NP_006114.1:p.Val83Gly
NC_000023.10:g.148585012A>C
NM_000202.6:c.248T>G
NR_104128.2:n.417T>G

Protein change:

V83G

Links:

dbSNP: rs1569560525

NCBI 1000 Genomes Browser:

rs1569560525

Molecular consequence:

NM_001166550.4:c.15-37T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000202.8:c.248T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006123.5:c.248T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104128.2:n.417T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Preauricular pit
Identifiers:: MedGen: C0266610; Human Phenotype Ontology: HP:0004467

Name:: Macrocephaly
Synonyms:: Macrocephalus; large head
Identifiers:: MedGen: C2243051; Human Phenotype Ontology: HP:0000256

Name:: Intermittent thrombocytopenia
Identifiers:: MedGen: C1839167; Human Phenotype Ontology: HP:0004854

Name:: Hypoplasia of proximal radius
Identifiers:: MedGen: C1859477; Human Phenotype Ontology: HP:0006434

Name:: Joint contracture of the hand
Identifiers:: MedGen: C0158113; Human Phenotype Ontology: HP:0009473

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000854447	Center for Personalized Medicine, Children's Hospital Los Angeles	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000854447

Center for Personalized Medicine, Children's Hospital Los Angeles

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Non-Hispanic, Asian/Pacific	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854447.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Non-Hispanic, Asian/Pacific	not provided	not provided	not provided	clinical testing (GTR000552474.2)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	discovery	(GTR000552474.2)	not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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