• replaced

NM_002693.2(POLG):c.1250+5G>T AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 12, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188652.3

Allele description

NM_002693.2(POLG):c.1250+5G>T

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.1250+5G>T
HGVS:
  • NC_000015.10:g.89328451C>A
  • NG_008218.2:g.11345G>T
  • NM_002693.2:c.1250+5G>T
  • LRG_765t1:c.1250+5G>T
  • LRG_765:g.11345G>T
  • NC_000015.9:g.89871682C>A
Links:
dbSNP: rs751221993
NCBI 1000 Genomes Browser:
rs751221993
Molecular consequence:
  • NM_002693.2:c.1250+5G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000242275GeneDxcriteria provided, single submitter
Uncertain significance
(May 12, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000242275.10

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

Description

c.1250+5 G>T: IVS6+5 G>T in intron 6 of the POLG gene (NM_002693.2). The c.1250+5 G>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1250+5 G>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1250+5 G>T may damage the natural donor site in intron 6 leading to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI,EPILEPSY panel(s).

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

Last Updated: Mar 30, 2019

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