NM_002693.2(POLG):c.970C>T (p.Pro324Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 28, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000710190.2

Allele description [Variation Report for NM_002693.2(POLG):c.970C>T (p.Pro324Ser)]

NM_002693.2(POLG):c.970C>T (p.Pro324Ser)

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.970C>T (p.Pro324Ser)
Other names:
p.P324S:CCC>TCC
HGVS:
  • NC_000015.10:g.89328996G>A
  • NG_008218.2:g.10800C>T
  • NM_002693.2:c.970C>T
  • NP_002684.1:p.Pro324Ser
  • LRG_765t1:c.970C>T
  • LRG_765:g.10800C>T
  • LRG_765p1:p.Pro324Ser
  • NC_000015.9:g.89872227G>A
  • NG_008218.1:g.10800C>T
  • P54098:p.Pro324Ser
Protein change:
P324S
Links:
UniProtKB: P54098#VAR_014905; dbSNP: rs2307437
NCBI 1000 Genomes Browser:
rs2307437
Molecular consequence:
  • NM_002693.2:c.970C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000341137EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 2, 2017)
germlineclinical testing

Citation Link,

SCV000614738Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Jun 28, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Citations

PubMed

Consequences of mutations in human DNA polymerase gamma.

Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.

Gene. 2005 Jul 18;354:125-31. Review.

PubMed [citation]
PMID:
15913923

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 (3)

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000341137.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

From Athena Diagnostics Inc, SCV000614738.2

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

Last Updated: Mar 30, 2019

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