NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) AND Mucopolysaccharidosis, MPS-III-B

Clinical significance:Likely pathogenic (Last evaluated: Mar 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000132722.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)]

NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
HGVS:
  • NC_000017.11:g.42543955G>A
  • NG_011552.1:g.13023G>A
  • NM_000263.4:c.1949G>AMANE SELECT
  • NP_000254.2:p.Gly650Glu
  • NC_000017.10:g.40695973G>A
  • NM_000263.3:c.1949G>A
  • P54802:p.Gly650Glu
Protein change:
G650E
Links:
UniProtKB: P54802#VAR_054736; dbSNP: rs527236037
NCBI 1000 Genomes Browser:
rs527236037
Molecular consequence:
  • NM_000263.4:c.1949G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-B (MPS3B)
Synonyms:
NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000187651Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Healthno assertion criteria providedpathogenicinheritednot provided

SCV000790585Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 29, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritednot providednot providednot providednot provided1not providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM, Jones JR, Wood TC.

J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14.

PubMed [citation]
PMID:
22976768

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ.

Eur J Hum Genet. 1999 Jan;7(1):34-44.

PubMed [citation]
PMID:
10094189
See all PubMed Citations (3)

Details of each submission

From Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health, SCV000187651.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednot provided1not providednot providednot providednot providednot providednot provided

From Counsyl, SCV000790585.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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