NM_002693.3(POLG):c.131A>G (p.Gln44Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 8, 2018
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:: RCV002381572.9

Allele description [Variation Report for NM_002693.3(POLG):c.131A>G (p.Gln44Arg)]

NM_002693.3(POLG):c.131A>G (p.Gln44Arg)

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.131A>G (p.Gln44Arg)

Other names:

p.Gln44Arg

HGVS:

NC_000015.10:g.89333624T>C
NG_008218.2:g.6172A>G
NM_001126131.2:c.131A>G
NM_002693.3:c.131A>GMANE SELECT
NP_001119603.1:p.Gln44Arg
NP_002684.1:p.Gln44Arg
NP_002684.1:p.Gln44Arg
LRG_765t1:c.131A>G
LRG_765:g.6172A>G
LRG_765p1:p.Gln44Arg
NC_000015.9:g.89876855T>C
NM_002693.2:c.131A>G

Protein change:

Q44R

Links:

dbSNP: rs757120802

NCBI 1000 Genomes Browser:

rs757120802

Molecular consequence:

NM_001126131.2:c.131A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.131A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002694782	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 8, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002694782

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 8, 2018)

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, SCV002694782.2

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

Description

The p.Q44R variant (also known as c.131A>G), located in coding exon 1 of the POLG gene, results from an A to G substitution at nucleotide position 131. The glutamine at codon 44 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Jan 19, 2025

ClinVar

Relating variation to medicine