NM_000169.3(GLA):c.116C>G (p.Thr39Arg) AND Fabry disease

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003484242.1

Allele description [Variation Report for NM_000169.3(GLA):c.116C>G (p.Thr39Arg)]

NM_000169.3(GLA):c.116C>G (p.Thr39Arg)

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.116C>G (p.Thr39Arg)

HGVS:

NC_000023.11:g.101407788G>C
NG_007119.1:g.5176C>G
NG_016327.1:g.4586G>C
NM_000169.3:c.116C>GMANE SELECT
NM_001199973.2:c.301-4148G>C
NM_001199974.2:c.178-4148G>C
NM_001406747.1:c.116C>G
NM_001406748.1:c.116C>G
NM_001406749.1:c.116C>G
NP_000160.1:p.Thr39Arg
NP_000160.1:p.Thr39Arg
NP_001393676.1:p.Thr39Arg
NP_001393677.1:p.Thr39Arg
NP_001393678.1:p.Thr39Arg
LRG_672t1:c.116C>G
LRG_672:g.5176C>G
LRG_672p1:p.Thr39Arg
NC_000023.10:g.100662776G>C
NM_000169.2:c.116C>G
NR_164783.1:n.138C>G
NR_176252.1:n.138C>G
NR_176253.1:n.138C>G

Protein change:

T39R

Molecular consequence:

NM_001199973.2:c.301-4148G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.178-4148G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.116C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406747.1:c.116C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406748.1:c.116C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406749.1:c.116C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.138C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176252.1:n.138C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176253.1:n.138C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Fabry disease
Synonyms:: Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004231807	Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004231807

Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Iranian	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, SCV004231807.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Iranian	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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