U.S. flag

An official website of the United States government

NM_002693.3(POLG):c.3483-13_3483-10dup AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 29, 2024
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:
RCV003994338.1

Allele description [Variation Report for NM_002693.3(POLG):c.3483-13_3483-10dup]

NM_002693.3(POLG):c.3483-13_3483-10dup

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3483-13_3483-10dup
HGVS:
  • NC_000015.10:g.89317547_89317550dup
  • NG_008218.2:g.22247_22250dup
  • NG_011736.1:g.78585_78588dup
  • NM_001126131.2:c.3483-13_3483-10dup
  • NM_002693.3:c.3483-13_3483-10dupMANE SELECT
  • LRG_765t1:c.3483-10_3483-9insGGGT
  • LRG_500:g.78585_78588dup
  • LRG_765:g.22247_22250dup
  • NC_000015.9:g.89860776_89860777insACCC
  • NC_000015.9:g.89860778_89860781dup
  • NM_002693.2:c.3483-10_3483-9insGGGT
  • NM_002693.3:c.3483-13_3483-10dupGGGTMANE SELECT
Links:
dbSNP: rs1324794268
NCBI 1000 Genomes Browser:
rs1324794268
Molecular consequence:
  • NM_001126131.2:c.3483-13_3483-10dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002693.3:c.3483-13_3483-10dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813938Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 29, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813938.1

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

Description

Variant summary: POLG c.3483-13_3483-10dupGGGT alters a conserved nucleotide located at a position not widely known to affect splicing. Several computational tools predict a potential significant impact on normal splicing. Three predict the variant has no significant negative impact on splicing, and one predicts the variant weakens a 3' acceptor site. Two also predict the variant creates a 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251128 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3483-13_3483-10dupGGGT in individuals affected with POLG-Related Spectrum Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1343944). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024