NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) AND Mucopolysaccharidosis, MPS-IV-A

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000000746.6

Allele description [Variation Report for NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)]

NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)

Gene:
GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
HGVS:
  • NC_000016.10:g.88835794C>T
  • NG_008667.1:g.26173G>A
  • NM_000512.5:c.689G>AMANE SELECT
  • NM_001323543.2:c.134G>A
  • NM_001323544.2:c.707G>A
  • NP_000503.1:p.Trp230Ter
  • NP_001310472.1:p.Trp45Ter
  • NP_001310473.1:p.Trp236Ter
  • NC_000016.9:g.88902202C>T
  • NM_000512.4:c.689G>A
Protein change:
W230*; TRP230TER
Links:
OMIM: 612222.0016; dbSNP: rs118204449
NCBI 1000 Genomes Browser:
rs118204449
Molecular consequence:
  • NM_000512.5:c.689G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323543.2:c.134G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323544.2:c.707G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-IV-A (MPS4A)
Synonyms:
MPS IVA; Morquio syndrome A; MPS 4A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009659; MedGen: C0086651; Orphanet: 309297; Orphanet: 582; OMIM: 253000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000020896OMIMno assertion criteria providedPathogenic
(Jul 1, 2003)
germlineliterature only

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

SCV001547769Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Pathogenic
(Feb 1, 2021)
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Montaño AM, Kaitila I, Sukegawa K, Tomatsu S, Kato Z, Nakamura H, Fukuda S, Orii T, Kondo N.

Hum Genet. 2003 Jul;113(2):162-9. Epub 2003 Apr 30.

PubMed [citation]
PMID:
12721840

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T.

Hum Mutat. 2005 Dec;26(6):500-12.

PubMed [citation]
PMID:
16287098
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000020896.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See 612222.0014 and Montano et al. (2003).

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

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV001547769.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

Nonsense variant (PVS1_very strong); in vitro and in vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; low to null in vitro enzymatic activity; PS3_moderate); absent from gnomAD v2.1.1 (PM2_moderate)

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

Last Updated: Sep 7, 2021

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