NM_000169.2(GLA):c.865A>T (p.Ile289Phe) AND Fabry disease

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2012
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:: RCV000078299.4

Allele description

NM_000169.2(GLA):c.865A>T (p.Ile289Phe)

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.865A>T (p.Ile289Phe)

HGVS:

NC_000023.11:g.101398504T>A
NG_007119.1:g.14460A>T
NM_000169.2:c.865A>T
NP_000160.1:p.Ile289Phe
LRG_672t1:c.865A>T
LRG_672:g.14460A>T
LRG_672p1:p.Ile289Phe
NC_000023.10:g.100653492T>A
P06280:p.Ile289Phe

Protein change:

I289F

Links:

UniProtKB: P06280#VAR_012424; dbSNP: rs140329381

GMAF:

0.0003(C), 140329381

NCBI 1000 Genomes Browser:

rs140329381

Molecular consequence:

NM_000169.2:c.865A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110139	Emory Genetics Laboratory,Emory University	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Nov 1, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000110139

Emory Genetics Laboratory,Emory University

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Nov 1, 2012)

germline

clinical testing

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

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

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 Emory Genetics Laboratory,Emory University, SCV000110139.4

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

#	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: Nov 6, 2016

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