NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jun 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001206725.2

Allele description [Variation Report for NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)]

NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
HGVS:
  • NC_000017.11:g.42541087_42541088del
  • NG_011552.1:g.10155_10156del
  • NM_000263.4:c.902_903delMANE SELECT
  • NP_000254.2:p.Lys301fs
  • NC_000017.10:g.40693104_40693105del
  • NC_000017.10:g.40693105_40693106del
  • NM_000263.3:c.902_903del
Protein change:
K301fs
Links:
dbSNP: rs2092920511
NCBI 1000 Genomes Browser:
rs2092920511
Molecular consequence:
  • NM_000263.4:c.902_903del - frameshift variant - [Sequence Ontology: SO:0001589]

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
Name:
Charcot-Marie-Tooth disease, axonal type 2V (CMT2V)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
Identifiers:
MONDO: MONDO:0014665; MedGen: C4225306; Orphanet: 447964; OMIM: 616491

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001378047Invitaecriteria provided, single submitter
Pathogenic
(Jun 20, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF.

Am J Hum Genet. 1998 Jan;62(1):64-9.

PubMed [citation]
PMID:
9443878
PMCID:
PMC1376809

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE, Young EP, Vellodi A, Winchester BG.

J Med Genet. 1998 Nov;35(11):910-4.

PubMed [citation]
PMID:
9832037
PMCID:
PMC1051483
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001378047.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Lys301Argfs*15) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with mucopolysaccharidosis IIIB (PMID: 9443878). This variant is also known as 901delAA in the literature. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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