NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) AND not provided

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 4, 2013
Review status:: 1 star out of maximum of 4 stars
classified by 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:: RCV000078262.1

Allele description

NM_000169.2(GLA):c.1025G>A (p.Arg342Gln)

Genes:

GLA:galactosidase, alpha [Gene - OMIM]
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000169.2(GLA):c.1025G>A (p.Arg342Gln)

HGVS:

NC_000023.11:g.101398074C>T
NG_007119.1:g.14890G>A
NM_000169.2:c.1025G>A
NP_000160.1:p.Arg342Gln
NC_000023.10:g.100653062C>T

Protein change:

R342Q; ARG342GLN

Links:

OMIM: 300644.0030; dbSNP: rs28935493

NCBI 1000 Genomes Browser:

rs28935493

Molecular consequence:

NM_001199973.1:c.408+2617C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.2:c.1025G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110102	Emory Genetics Laboratory	classified by single submitter	Pathogenic (Sep 4, 2013)	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

SCV000110102

Emory Genetics Laboratory

classified by single submitter

Pathogenic
(Sep 4, 2013)

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	not provided	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, SCV000110102.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000503037)	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	(GTR000503037)	not provided	not provided	not provided	not provided

Last Updated: Jan 28, 2015

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