NM_000152.5(GAA):c.545C>G (p.Thr182Arg) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Feb 17, 2023
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:: RCV000594745.9

Allele description [Variation Report for NM_000152.5(GAA):c.545C>G (p.Thr182Arg)]

NM_000152.5(GAA):c.545C>G (p.Thr182Arg)

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.545C>G (p.Thr182Arg)

HGVS:

NC_000017.11:g.80105131C>G
NG_009822.1:g.8576C>G
NM_000152.5:c.545C>GMANE SELECT
NM_001079803.3:c.545C>G
NM_001079804.3:c.545C>G
NP_000143.2:p.Thr182Arg
NP_001073271.1:p.Thr182Arg
NP_001073272.1:p.Thr182Arg
LRG_673t1:c.545C>G
LRG_673:g.8576C>G
NC_000017.10:g.78078930C>G
NC_000017.10:g.78078930C>G
NM_000152.3:c.545C>G
NM_000152.4(GAA):c.545C>G
p.Thr182Arg

Protein change:

T182R

Links:

dbSNP: rs200524747

NCBI 1000 Genomes Browser:

rs200524747

Molecular consequence:

NM_000152.5:c.545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079803.3:c.545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079804.3:c.545C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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D048949 (1)
MeSH
Labor Pain
Labor Pain
Pain associated with OBSTETRIC LABOR in CHILDBIRTH. It is caused primarily by UTERINE CONTRACTION as well as pressure on the CERVIX; BLADDER; and the GASTROINTESTINAL TRACT. L...<br/>Year introduced: 2005

MeSH
LOC111712849 [Eurytemora carolleeae]
LOC111712849 [Eurytemora carolleeae]
Gene ID:111712849

Gene
Gene Links for Nucleotide (Select 2462546901) (1)
Gene
SLC12A6 solute carrier family 12 member 6 [Homo sapiens]
SLC12A6 solute carrier family 12 member 6 [Homo sapiens]
Gene ID:9990

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000704834	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Oct 9, 2017)	germline	clinical testing	Citation Link,
SCV003834070	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 27, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003837020	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000704834

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Oct 9, 2017)

germline

clinical testing

Citation Link,

SCV003834070

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 27, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003837020

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 17, 2023)

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
not provided	germline	unknown	2	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), SCV000704834.2

#	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 Revvity Omics, Revvity, SCV003834070.2

#	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

From GeneDx, SCV003837020.1

#	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); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29149851, 22253258, 19343043)

#	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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