NM_000512.5(GALNS):c.850T>G (p.Phe284Val) AND Morquio syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 9, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000844697.1

Allele description [Variation Report for NM_000512.5(GALNS):c.850T>G (p.Phe284Val)]

NM_000512.5(GALNS):c.850T>G (p.Phe284Val)

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.850T>G (p.Phe284Val)
HGVS:
  • NC_000016.10:g.88835261A>C
  • NG_008667.1:g.26706T>G
  • NM_000512.5:c.850T>GMANE SELECT
  • NM_001323543.2:c.295T>G
  • NM_001323544.2:c.868T>G
  • NP_000503.1:p.Phe284Val
  • NP_001310472.1:p.Phe99Val
  • NP_001310473.1:p.Phe290Val
  • NC_000016.9:g.88901669A>C
  • NM_000512.4:c.850T>G
  • P34059:p.Phe284Val
Protein change:
F284V
Links:
UniProtKB: P34059#VAR_007210; dbSNP: rs144067930
NCBI 1000 Genomes Browser:
rs144067930
Molecular consequence:
  • NM_000512.5:c.850T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323543.2:c.295T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323544.2:c.868T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Morquio syndrome
Synonyms:
Mucopolysaccharidosis, Type IV; MPS IV; Mucopolysaccharidosis type 4
Identifiers:
MONDO: MONDO:0018938; MedGen: C0026707; Orphanet: 582

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000712089Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(May 9, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):129-38. doi: 10.1016/j.ymgme.2013.06.008. Epub 2013 Jun 26.

PubMed [citation]
PMID:
23876334
PMCID:
PMC3779837

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T.

Hum Mutat. 1998;11(3):202-8.

PubMed [citation]
PMID:
9521421
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000712089.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The p.Phe284Val variant in GALNS has been reported in four patients with mucopol ysaccharidosis type IVa (one compound heterozygote and two homozygotes) (Yamada 1998, Morrone 2014, Dung 2013). This variant has also been identified in 0.04% ( 28/75778) of chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs144067930). Although this variant has been seen in t he general population, its frequency is low enough to be consistent with a reces sive carrier frequency. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summa ry, although additional studies are required to fully establish its clinical sig nificance, the p.Phe284Val variant is likely pathogenic.

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

Last Updated: Sep 6, 2021

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