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NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 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:
RCV002317146.9

Allele description [Variation Report for NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)]

NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)

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.3139C>T (p.Arg1047Trp)
Other names:
p.R1047W:CGG>TGG
HGVS:
  • NC_000015.10:g.89319065G>A
  • NG_008218.2:g.20731C>T
  • NG_011736.1:g.80103G>A
  • NM_001126131.2:c.3139C>T
  • NM_002693.3:c.3139C>TMANE SELECT
  • NP_001119603.1:p.Arg1047Trp
  • NP_002684.1:p.Arg1047Trp
  • NP_002684.1:p.Arg1047Trp
  • LRG_765t1:c.3139C>T
  • LRG_500:g.80103G>A
  • LRG_765:g.20731C>T
  • LRG_765p1:p.Arg1047Trp
  • NC_000015.9:g.89862296G>A
  • NM_002693.2:c.3139C>T
  • p.Arg1047Trp
Protein change:
R1047W
Links:
dbSNP: rs181860632
NCBI 1000 Genomes Browser:
rs181860632
Molecular consequence:
  • NM_001126131.2:c.3139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.3139C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851544Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 27, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Juvenile Alpers disease.

Wiltshire E, Davidzon G, DiMauro S, Akman HO, Sadleir L, Haas L, Zuccollo J, McEwen A, Thorburn DR.

Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14.

PubMed [citation]
PMID:
18195149

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.

J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180.

PubMed [citation]
PMID:
19251978

Details of each submission

From Ambry Genetics, SCV000851544.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.3139C>T (p.R1047W) alteration is located in exon 20 (coding exon 19) of the POLG gene. This alteration results from a C to T substitution at nucleotide position 3139, causing the arginine (R) at amino acid position 1047 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024