NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs) AND not specified

Clinical significance:Likely pathogenic (Last evaluated: Mar 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000506657.1

Allele description [Variation Report for NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs)]

NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs)
HGVS:
  • NC_000015.10:g.89318614dupC
  • NG_008218.2:g.21182dup
  • NM_002693.2:c.3409dupG
  • NP_002684.1:p.Val1137Glyfs
  • LRG_765t1:c.3409dup
  • LRG_765:g.21182dup
  • LRG_765p1:p.Val1137Glyfs
  • NC_000015.9:g.89861845dupC
Links:
dbSNP: rs1555452461
NCBI 1000 Genomes Browser:
rs1555452461
Molecular consequence:
  • NM_002693.2:c.3409dupG - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000604904ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Mar 25, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000604904.1

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

Last Updated: Apr 17, 2019

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