NM_000152.5(GAA):c.1504A>G (p.Met502Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 2016
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:: RCV000506584.10

Allele description [Variation Report for NM_000152.5(GAA):c.1504A>G (p.Met502Val)]

NM_000152.5(GAA):c.1504A>G (p.Met502Val)

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.1504A>G (p.Met502Val)

Other names:

NM_000152.5(GAA):c.1504A>G

HGVS:

NC_000017.11:g.80110793A>G
NG_009822.1:g.14238A>G
NM_000152.5:c.1504A>GMANE SELECT
NM_001079803.3:c.1504A>G
NM_001079804.3:c.1504A>G
NP_000143.2:p.Met502Val
NP_001073271.1:p.Met502Val
NP_001073272.1:p.Met502Val
LRG_673t1:c.1504A>G
LRG_673:g.14238A>G
NC_000017.10:g.78084592A>G
NC_000017.10:g.78084592A>G
NM_000152.3:c.1504A>G
NM_000152.4(GAA):c.1504A>G
p.Met502Val

Protein change:

M502V

Links:

dbSNP: rs376067362

NCBI 1000 Genomes Browser:

rs376067362

Molecular consequence:

NM_000152.5:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079803.3:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079804.3:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000603776	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Oct 12, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000603776

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Oct 12, 2016)

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603776.1

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

Last Updated: Nov 10, 2024

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