NM_000169.3(GLA):c.643A>C (p.Asn215His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 5, 2013
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:: RCV000156120.4

Allele description [Variation Report for NM_000169.3(GLA):c.643A>C (p.Asn215His)]

NM_000169.3(GLA):c.643A>C (p.Asn215His)

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_000169.3(GLA):c.643A>C (p.Asn215His)

HGVS:

NC_000023.11:g.101398943T>G
NG_007119.1:g.14021A>C
NM_000169.3:c.643A>CMANE SELECT
NM_001199973.2:c.300+3486T>G
NM_001199974.2:c.177+7121T>G
NM_001406747.1:c.766A>C
NM_001406748.1:c.643A>C
NP_000160.1:p.Asn215His
NP_000160.1:p.Asn215His
NP_001393676.1:p.Asn256His
NP_001393677.1:p.Asn215His
LRG_672t1:c.643A>C
LRG_672:g.14021A>C
LRG_672p1:p.Asn215His
NC_000023.10:g.100653931T>G
NM_000169.2:c.643A>C
NR_164783.1:n.722A>C
NR_176252.1:n.573A>C
NR_176253.1:n.780A>C

Protein change:

N215H

Links:

dbSNP: rs727504794

NCBI 1000 Genomes Browser:

rs727504794

Molecular consequence:

NM_001199973.2:c.300+3486T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.177+7121T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.643A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406747.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406748.1:c.643A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.722A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176252.1:n.573A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176253.1:n.780A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]
POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]
gi|125490392|ref|NP_038661.2|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000205834	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Oct 5, 2013)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 15886492, 17555407, 21598360, 8395937, 7531540, 15702404, 23568732, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000205834

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Oct 5, 2013)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Fabry disease in patients with end-stage renal failure: the potential benefits of screening.

Bekri S, Enica A, Ghafari T, Plaza G, Champenois I, Choukroun G, Unwin R, Jaeger P.

Nephron Clin Pract. 2005;101(1):c33-8. Epub 2005 May 9.

PubMed [citation]

PMID:: 15886492

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ.

Biochem J. 2007 Sep 1;406(2):285-95.

PubMed [citation]

PMID:: 17555407
PMCID:: PMC1948963

See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205834.4

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

Description

The Asn215His variant in GLA has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Another variant at this positi on (Asn215Ser) has been reported in individuals with Fabry disease (Davies 1993, Eng 1994, Mills 2005). However, asparagine (Asn) at position 215 is not complet ely conserved in evolution with one mammal (opossum) carrying the variant amino acid (His), raising the possibility that the Asn215His change is tolerated. In summary, additional studies are needed to fully assess its clinical significance .

#	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		1	not provided	1	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine