NM_002693.3(POLG):c.3095C>G (p.Thr1032Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 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:: RCV002314513.9

Allele description [Variation Report for NM_002693.3(POLG):c.3095C>G (p.Thr1032Ser)]

NM_002693.3(POLG):c.3095C>G (p.Thr1032Ser)

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.3095C>G (p.Thr1032Ser)

HGVS:

NC_000015.10:g.89319237G>C
NG_008218.2:g.20559C>G
NM_001126131.2:c.3095C>G
NM_002693.3:c.3095C>GMANE SELECT
NP_001119603.1:p.Thr1032Ser
NP_002684.1:p.Thr1032Ser
NP_002684.1:p.Thr1032Ser
LRG_765t1:c.3095C>G
LRG_765:g.20559C>G
LRG_765p1:p.Thr1032Ser
NC_000015.9:g.89862468G>C
NM_002693.2:c.3095C>G

Protein change:

T1032S

Links:

dbSNP: rs747482927

NCBI 1000 Genomes Browser:

rs747482927

Molecular consequence:

NM_001126131.2:c.3095C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.3095C>G - 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
SCV000848216	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 11, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000848216

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 11, 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 Ambry Genetics, SCV000848216.4

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

Description

The p.T1032S variant (also known as c.3095C>G), located in coding exon 18 of the POLG gene, results from a C to G substitution at nucleotide position 3095. The threonine at codon 1032 is replaced by serine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6499 samples (12998 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. 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 variant 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: Jun 2, 2024

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