NM_000169.2(GLA):c.101A>G (p.Asn34Ser) AND Fabry disease

Clinical significance:Pathogenic (Last evaluated: Jul 17, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000011471.6

Allele description [Variation Report for NM_000169.2(GLA):c.101A>G (p.Asn34Ser)]

NM_000169.2(GLA):c.101A>G (p.Asn34Ser)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.2(GLA):c.101A>G (p.Asn34Ser)
HGVS:
  • NC_000023.11:g.101407803T>C
  • NG_007119.1:g.5161A>G
  • NM_000169.2:c.101A>G
  • NP_000160.1:p.Asn34Ser
  • LRG_672t1:c.101A>G
  • LRG_672:g.5161A>G
  • LRG_672p1:p.Asn34Ser
  • NC_000023.10:g.100662791T>C
  • P06280:p.Asn34Ser
  • p.N34S
Protein change:
N34S; ASN34SER
Links:
UniProtKB: P06280#VAR_000432; OMIM: 300644.0012; dbSNP: 104894835
NCBI 1000 Genomes Browser:
rs104894835
Molecular consequence:
  • NM_000169.2:c.101A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Fabry disease
Synonyms:
Fabry's disease
Identifiers:
MedGen: C0002986; Orphanet: 324; OMIM: 301500
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 324

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031703OMIMno assertion criteria providedPathogenic
(Dec 1, 1993)
germlineliterature only

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

SCV000110100Emory Genetics Laboratory,Emory Universitycriteria provided, single submitter
Pathogenic
(Jul 17, 2012)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ.

Am J Hum Genet. 1993 Dec;53(6):1186-97.

PubMed [citation]
PMID:
7504405
PMCID:
PMC1682507

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From OMIM, SCV000031703.1

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

Description

In a patient with classic Fabry disease (301500), Eng et al. (1993) found an A-to-G transition in exon 1 of the GLA gene, resulting in an asn34-to-ser (N34S) substitution.

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

From Emory Genetics Laboratory,Emory University, SCV000110100.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 8, 2017