NM_000202.8(IDS):c.925A>G (p.Thr309Ala) AND Mucopolysaccharidosis, MPS-III-A

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 12, 2020
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:: RCV001833092.8

Allele description [Variation Report for NM_000202.8(IDS):c.925A>G (p.Thr309Ala)]

NM_000202.8(IDS):c.925A>G (p.Thr309Ala)

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.925A>G (p.Thr309Ala)

HGVS:

NC_000023.11:g.149490395T>C
NG_011900.3:g.19940A>G
NG_042264.1:g.3750T>C
NM_000202.8:c.925A>GMANE SELECT
NM_001166550.4:c.655A>G
NM_006123.5:c.925A>G
NP_000193.1:p.Thr309Ala
NP_001160022.1:p.Thr219Ala
NP_006114.1:p.Thr309Ala
NC_000023.10:g.148571926T>C
NM_000202.5:c.925A>G
NM_000202.6:c.925A>G
NR_104128.2:n.1224A>G
P22304:p.Thr309Ala

Protein change:

T219A

Links:

UniProtKB: P22304#VAR_026945; dbSNP: rs145807417

NCBI 1000 Genomes Browser:

rs145807417

Molecular consequence:

NM_000202.8:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001166550.4:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006123.5:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104128.2:n.1224A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mucopolysaccharidosis, MPS-III-A (MPS3A)
Synonyms:: SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002084473	Natera, Inc.	no assertion criteria provided	Benign (Apr 12, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002084473

Natera, Inc.

no assertion criteria provided

Benign
(Apr 12, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002084473.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 3, 2024

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