NM_000152.5(GAA):c.989G>A (p.Trp330Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 6, 2022
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:: RCV002289951.2

Allele description [Variation Report for NM_000152.5(GAA):c.989G>A (p.Trp330Ter)]

NM_000152.5(GAA):c.989G>A (p.Trp330Ter)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000152.5(GAA):c.989G>A (p.Trp330Ter)

HGVS:

NC_000017.11:g.80108323G>A
NG_009822.1:g.11768G>A
NM_000152.5:c.989G>AMANE SELECT
NM_001079803.3:c.989G>A
NM_001079804.3:c.989G>A
NP_000143.2:p.Trp330Ter
NP_001073271.1:p.Trp330Ter
NP_001073272.1:p.Trp330Ter
LRG_673t1:c.989G>A
LRG_673:g.11768G>A
NC_000017.10:g.78082122G>A
NM_000152.3:c.989G>A
NM_000152.4(GAA):c.989G>A
p.Trp330Ter

Protein change:

W330*

Links:

dbSNP: rs1555599960

NCBI 1000 Genomes Browser:

rs1555599960

Molecular consequence:

NM_000152.5:c.989G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001079803.3:c.989G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001079804.3:c.989G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002578804	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002578804

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 6, 2022)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV002578804.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Reported in ClinVar as pathogenic by the ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel (ClinVar Variant ID#550355; SCV001371765.1 ); This variant is associated with the following publications: (PMID: 25525159, 18425781, 22252923, 12923862, 29880332)

#	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 29, 2024

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