NM_000512.4(GALNS):c.485C>T (p.Ser162Phe) AND Mucopolysaccharidosis, MPS-IV-A

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 7, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000000744.3

Allele description

NM_000512.4(GALNS):c.485C>T (p.Ser162Phe)

Gene:

GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000512.4(GALNS):c.485C>T (p.Ser162Phe)

HGVS:

NC_000016.10:g.88837703G>A
NG_008667.1:g.24264C>T
NM_000512.4:c.485C>T
NM_001323543.1:c.-71C>T
NP_000503.1:p.Ser162Phe
NC_000016.9:g.88904111G>A
P34059:p.Ser162Phe

Protein change:

S162F; SER162PHE

Links:

UniProtKB: P34059#VAR_024891; OMIM: 612222.0011; dbSNP: rs118204444

NCBI 1000 Genomes Browser:

rs118204444

Allele Frequency:

0.00001(A)

Molecular consequence:

NM_001323543.1:c.-71C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000512.4:c.485C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020894	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000700409	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Mar 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020894

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1997)

germline

literature only

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

SCV000700409

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Mar 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.

Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N.

Hum Genet. 1997 Nov;101(1):97-101.

PubMed [citation]

PMID:: 9385378

Details of each submission

From OMIM, SCV000020894.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See 612222.0010 and Kato et al. (1997).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000700409.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Jul 21, 2018

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