NM_000169.3(GLA):c.239G>A (p.Gly80Asp) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 18, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000732705.10

Allele description [Variation Report for NM_000169.3(GLA):c.239G>A (p.Gly80Asp)]

NM_000169.3(GLA):c.239G>A (p.Gly80Asp)

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.239G>A (p.Gly80Asp)

HGVS:

NC_000023.11:g.101403941C>T
NG_007119.1:g.9023G>A
NG_016327.1:g.739C>T
NM_000169.3:c.239G>AMANE SELECT
NM_001199973.2:c.301-7995C>T
NM_001199974.2:c.178-7995C>T
NP_000160.1:p.Gly80Asp
NP_000160.1:p.Gly80Asp
LRG_672t1:c.239G>A
LRG_672:g.9023G>A
LRG_672p1:p.Gly80Asp
NC_000023.10:g.100658929C>T
NM_000169.2:c.239G>A
NR_164783.1:n.261G>A
P06280:p.Gly80Asp
p.G80D

Protein change:

G80D

Links:

UniProtKB: P06280#VAR_077378; dbSNP: rs781838005

NCBI 1000 Genomes Browser:

rs781838005

Molecular consequence:

NM_001199973.2:c.301-7995C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.178-7995C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.261G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

effect on protein activity [Variation Ontology: 0053]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000860685	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Mar 29, 2018)	germline	clinical testing	Citation Link,
SCV003816838	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 18, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000860685

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Mar 29, 2018)

germline

clinical testing

Citation Link,

SCV003816838

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 18, 2020)

germline

clinical testing

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

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 Eurofins Ntd Llc (ga), SCV000860685.1

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

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003816838.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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