NM_002693.2(POLG):c.970C>A (p.Pro324Thr) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jul 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000195076.3

Allele description [Variation Report for NM_002693.2(POLG):c.970C>A (p.Pro324Thr)]

NM_002693.2(POLG):c.970C>A (p.Pro324Thr)

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>A (p.Pro324Thr)
HGVS:
  • NC_000015.10:g.89328996G>T
  • NG_008218.2:g.10800C>A
  • NM_002693.2:c.970C>A
  • NP_002684.1:p.Pro324Thr
  • LRG_765t1:c.970C>A
  • LRG_765:g.10800C>A
  • LRG_765p1:p.Pro324Thr
  • NC_000015.9:g.89872227G>T
Protein change:
P324T
Links:
dbSNP: rs2307437
NCBI 1000 Genomes Browser:
rs2307437
Molecular consequence:
  • NM_002693.2:c.970C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000248562Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Apr 7, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000524130GeneDxcriteria provided, single submitter
Likely benign
(Jul 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000248562.1

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

From GeneDx, SCV000524130.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Mar 30, 2019

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