NM_000152.5(GAA):c.1326+1G>A AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 18, 2022
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:: RCV000734207.5

Allele description [Variation Report for NM_000152.5(GAA):c.1326+1G>A]

NM_000152.5(GAA):c.1326+1G>A

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.1326+1G>A

HGVS:

NC_000017.11:g.80108829G>A
NG_009822.1:g.12274G>A
NM_000152.5:c.1326+1G>AMANE SELECT
NM_001079803.3:c.1326+1G>A
NM_001079804.3:c.1326+1G>A
NM_001406741.1:c.1326+1G>A
NM_001406742.1:c.1326+1G>A
LRG_673:g.12274G>A
NC_000017.10:g.78082628G>A
NC_000017.10:g.78082628G>A
NM_000152.5(GAA):c.1326+1G>AMANE SELECT

Links:

dbSNP: rs1205507761

NCBI 1000 Genomes Browser:

rs1205507761

Molecular consequence:

NM_000152.5:c.1326+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001079803.3:c.1326+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001079804.3:c.1326+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406741.1:c.1326+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406742.1:c.1326+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000862331	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (Jul 20, 2018)	germline	clinical testing	Citation Link,
SCV002501119	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 18, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10189220, 21228398, 25525159, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000862331

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(Jul 20, 2018)

germline

clinical testing

Citation Link,

SCV002501119

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 18, 2022)

germline

clinical testing

PubMed (4)
[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	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.

Raben N, Lee E, Lee L, Hirschhorn R, Plotz PH.

Hum Mutat. 1999;13(1):83-4.

PubMed [citation]

PMID:: 10189220

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

PubMed [citation]

PMID:: 21228398
PMCID:: PMC3740116

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000862331.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002501119.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (4)

#	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		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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