NM_000046.5(ARSB):c.971G>T (p.Gly324Val) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 7, 2014
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:: RCV000078005.15

Allele description [Variation Report for NM_000046.5(ARSB):c.971G>T (p.Gly324Val)]

NM_000046.5(ARSB):c.971G>T (p.Gly324Val)

Gene:

ARSB:arylsulfatase B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_000046.5(ARSB):c.971G>T (p.Gly324Val)

HGVS:

NC_000005.10:g.78885755C>A
NG_007089.1:g.105780G>T
NM_000046.5:c.971G>TMANE SELECT
NM_198709.3:c.971G>T
NP_000037.2:p.Gly324Val
NP_000037.2:p.Gly324Val
NP_942002.1:p.Gly324Val
NC_000005.9:g.78181578C>A
NM_000046.3:c.971G>T
NM_000046.4:c.971G>T

Protein change:

G324V

Links:

dbSNP: rs398123125

NCBI 1000 Genomes Browser:

rs398123125

Molecular consequence:

NM_000046.5:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198709.3:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109843	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jan 7, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17458871, 23557332 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109843

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jan 7, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	8	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ.

Hum Mutat. 2007 Sep;28(9):897-903.

PubMed [citation]

PMID:: 17458871

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ.

Orphanet J Rare Dis. 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51.

PubMed [citation]

PMID:: 23557332
PMCID:: PMC3637222

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109843.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	clinical testing	PubMed (2)

#	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		8	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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