NM_000169.3(GLA):c.181G>C (p.Asp61His) AND Fabry disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 2023
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:: RCV003239279.2

Allele description [Variation Report for NM_000169.3(GLA):c.181G>C (p.Asp61His)]

NM_000169.3(GLA):c.181G>C (p.Asp61His)

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.181G>C (p.Asp61His)

HGVS:

NC_000023.11:g.101407723C>G
NG_007119.1:g.5241G>C
NG_016327.1:g.4521C>G
NM_000169.3:c.181G>CMANE SELECT
NM_001199973.2:c.301-4213C>G
NM_001199974.2:c.178-4213C>G
NM_001406747.1:c.181G>C
NM_001406748.1:c.181G>C
NM_001406749.1:c.181G>C
NP_000160.1:p.Asp61His
NP_000160.1:p.Asp61His
NP_001393676.1:p.Asp61His
NP_001393677.1:p.Asp61His
NP_001393678.1:p.Asp61His
LRG_672t1:c.181G>C
LRG_672:g.5241G>C
LRG_672p1:p.Asp61His
NC_000023.10:g.100662711C>G
NM_000169.2:c.181G>C
NR_164783.1:n.203G>C
NR_176252.1:n.203G>C
NR_176253.1:n.203G>C

Protein change:

D61H

Molecular consequence:

NM_001199973.2:c.301-4213C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.178-4213C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.181G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406747.1:c.181G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406748.1:c.181G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406749.1:c.181G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.203G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176252.1:n.203G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176253.1:n.203G>C - 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
SCV003935294	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 27, 2023)	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

SCV003935294

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 27, 2023)

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
not provided	germline	yes	not provided	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 3billion, SCV003935294.1

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

Description

The missense variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest the damaging effect of the variant on the gene or gene product (REVEL: 0.44; 3Cnet: 0.93). As the evidence of pathogenicity is insufficient at this time, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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