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NM_002693.3(POLG):c.856-17CTC[6] AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 15, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV001663444.6

Allele description [Variation Report for NM_002693.3(POLG):c.856-17CTC[6]]

NM_002693.3(POLG):c.856-17CTC[6]

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.856-17CTC[6]
HGVS:
  • NC_000015.10:g.89329113GAG[6]
  • NG_008218.2:g.10669CTC[6]
  • NM_001126131.2:c.856-17CTC[6]
  • NM_002693.3:c.856-17CTC[6]MANE SELECT
  • LRG_765t1:c.856-5_856-3dup
  • LRG_765:g.10669CTC[6]
  • NC_000015.9:g.89872343_89872344insGAG
  • NC_000015.9:g.89872344GAG[6]
  • NM_002693.2:c.856-5_856-3dup
  • NM_002693.2:c.856-5_856-3dupCTC
Links:
dbSNP: rs200056162
NCBI 1000 Genomes Browser:
rs200056162
Molecular consequence:
  • NM_001126131.2:c.856-17CTC[6] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002693.3:c.856-17CTC[6] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001879845Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Uncertain significance
(Feb 16, 2021) 		unknownclinical testing

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

SCV001960492GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 15, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001879845.1

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

From GeneDx, SCV001960492.2

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

Last Updated: Oct 13, 2024