NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2023
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:: RCV002316314.9

Allele description [Variation Report for NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)]

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

Gene:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

HGVS:

NC_000015.10:g.89319073A>G
NG_008218.2:g.20723T>C
NG_011736.1:g.80111A>G
NM_001126131.2:c.3131T>C
NM_002693.3:c.3131T>CMANE SELECT
NP_001119603.1:p.Val1044Ala
NP_002684.1:p.Val1044Ala
NP_002684.1:p.Val1044Ala
LRG_765t1:c.3131T>C
LRG_500:g.80111A>G
LRG_765:g.20723T>C
LRG_765p1:p.Val1044Ala
NC_000015.9:g.89862304A>G
NM_001126131.1:c.3131T>C
NM_002693.2:c.3131T>C
NM_002693.3:c.3131T>C
p.V1044A

Protein change:

V1044A

Links:

dbSNP: rs150233690

NCBI 1000 Genomes Browser:

rs150233690

Molecular consequence:

NM_001126131.2:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000851313	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21357833, 21880868, 28337550, 28776642 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000851313

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H.

Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25.

PubMed [citation]

PMID:: 21357833

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PubMed [citation]

PMID:: 21880868

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000851313.4

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

Description

The c.3131T>C (p.V1044A) alteration is located in exon 20 (coding exon 19) of the POLG gene. This alteration results from a T to C substitution at nucleotide position 3131, causing the valine (V) at amino acid position 1044 to be replaced by an alanine (A). 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 24, 2024

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