U.S. flag

An official website of the United States government

NM_000202.8(IDS):c.449C>T (p.Pro150Leu) AND Mucopolysaccharidosis, MPS-III-A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV001832520.1

Allele description [Variation Report for NM_000202.8(IDS):c.449C>T (p.Pro150Leu)]

NM_000202.8(IDS):c.449C>T (p.Pro150Leu)

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.449C>T (p.Pro150Leu)
HGVS:
  • NC_000023.11:g.149501007G>A
  • NG_011900.3:g.9328C>T
  • NG_042264.1:g.14362G>A
  • NM_000202.8:c.449C>TMANE SELECT
  • NM_001166550.4:c.179C>T
  • NM_006123.5:c.449C>T
  • NP_000193.1:p.Pro150Leu
  • NP_001160022.1:p.Pro60Leu
  • NP_006114.1:p.Pro150Leu
  • NC_000023.10:g.148582538G>A
  • NM_000202.6:c.449C>T
  • NR_104128.2:n.618C>T
Protein change:
P150L
Links:
dbSNP: rs1406337035
NCBI 1000 Genomes Browser:
rs1406337035
Molecular consequence:
  • NM_000202.8:c.449C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166550.4:c.179C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006123.5:c.449C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104128.2:n.618C>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002084490Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jul 15, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002084490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024