NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 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:: RCV004029065.1

Allele description [Variation Report for NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)]

NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)

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.2598A>C (p.Glu866Asp)

HGVS:

NC_000017.11:g.80118309A>C
NG_009822.1:g.21754A>C
NM_000152.5:c.2598A>CMANE SELECT
NM_001079803.3:c.2598A>C
NM_001079804.3:c.2598A>C
NP_000143.2:p.Glu866Asp
NP_001073271.1:p.Glu866Asp
NP_001073272.1:p.Glu866Asp
LRG_673t1:c.2598A>C
LRG_673:g.21754A>C
NC_000017.10:g.78092108A>C
NM_000152.3:c.2598A>C

Protein change:

E866D

Links:

dbSNP: rs1445358978

NCBI 1000 Genomes Browser:

rs1445358978

Molecular consequence:

NM_000152.5:c.2598A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001079803.3:c.2598A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001079804.3:c.2598A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003526649	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003526649

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 16, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003526649.2

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

Description

The c.2598A>C (p.E866D) alteration is located in exon 18 (coding exon 17) of the GAA gene. This alteration results from a A to C substitution at nucleotide position 2598, causing the glutamic acid (E) at amino acid position 866 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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