NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Jan 22, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000712805.5

Allele description [Variation Report for NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp)]

NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp)
Other names:
p.R1187W:CGG>TGG
HGVS:
  • NC_000015.10:g.89317460G>A
  • NG_008218.2:g.22336C>T
  • NG_011736.1:g.78498G>A
  • NM_001126131.2:c.3559C>T
  • NM_002693.2:c.3559C>T
  • NP_001119603.1:p.Arg1187Trp
  • NP_002684.1:p.Arg1187Trp
  • LRG_765t1:c.3559C>T
  • LRG_500:g.78498G>A
  • LRG_765:g.22336C>T
  • LRG_765p1:p.Arg1187Trp
  • NC_000015.9:g.89860691G>A
Protein change:
R1187W
Links:
dbSNP: rs369544574
NCBI 1000 Genomes Browser:
rs369544574
Molecular consequence:
  • NM_001126131.2:c.3559C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.2:c.3559C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242250GeneDxcriteria provided, single submitter
Likely benign
(Jan 22, 2021)
germlineclinical testing

Citation Link,

SCV000843338Athena Diagnostics Inccriteria provided, single submitter
Benign
(May 9, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001501092CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Dec 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V.

Eur J Hum Genet. 2014 Apr;22(4):542-50. doi: 10.1038/ejhg.2013.171. Epub 2013 Aug 7.

PubMed [citation]
PMID:
23921535
PMCID:
PMC3953900

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

Reichenbach J, Schubert R, Horvàth R, Petersen J, Fütterer N, Malle E, Stumpf A, Gebhardt BR, Koehl U, Schraven B, Zielen S.

Pediatr Res. 2006 Sep;60(3):321-6. Epub 2006 Jul 20.

PubMed [citation]
PMID:
16857757
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000242250.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 26607151, 26341968, 23921535, 16857757, 33469851)

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

From Athena Diagnostics Inc, SCV000843338.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001501092.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 26, 2021

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