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NM_130797.4(DPP6):c.244-141059C>T AND Ventricular fibrillation, paroxysmal familial, 2

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000018285.39

Allele description [Variation Report for NM_130797.4(DPP6):c.244-141059C>T]

NM_130797.4(DPP6):c.244-141059C>T

Gene:
DPP6:dipeptidyl peptidase like 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.2
Genomic location:
Preferred name:
NM_130797.4(DPP6):c.244-141059C>T
HGVS:
  • NC_000007.14:g.154305155C>T
  • NG_033878.2:g.562170C>T
  • NM_001039350.3:c.52-141059C>T
  • NM_001290253.2:c.244-141059C>T
  • NM_001364497.2:c.61-141059C>T
  • NM_001364498.2:c.61-141059C>T
  • NM_001364499.2:c.61-141059C>T
  • NM_001364500.2:c.61-141059C>T
  • NM_001364501.2:c.52-141059C>T
  • NM_130797.4:c.244-141059C>TMANE SELECT
  • NC_000007.13:g.154002240C>T
  • NM_001936.3:c.-340C>T
  • c.-340C>T
Nucleotide change:
-340C-T (rs3807218)
Links:
Genetic Testing Registry (GTR): GTR000511116; OMIM: 126141.0001; dbSNP: rs606231226
NCBI 1000 Genomes Browser:
rs606231226
Molecular consequence:
  • NM_001039350.3:c.52-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001290253.2:c.244-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364497.2:c.61-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364498.2:c.61-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364499.2:c.61-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364500.2:c.61-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364501.2:c.52-141059C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130797.4:c.244-141059C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Ventricular fibrillation, paroxysmal familial, 2 (VF2)
Identifiers:
MONDO: MONDO:0013063; MedGen: C2751829; Orphanet: 228140; OMIM: 612956

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038564OMIM
no assertion criteria provided
risk factor
(Apr 1, 2009) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.

Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MW, Zeppenfeld K, Loh P, Koch KT, Demolombe S, Mannens MM, Bezzina CR, Wilde AA.

Am J Hum Genet. 2009 Apr;84(4):468-76. doi: 10.1016/j.ajhg.2009.02.009. Epub 2009 Mar 12.

PubMed [citation]
PMID:
19285295
PMCID:
PMC2667995

Details of each submission

From OMIM, SCV000038564.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 related families from the Netherlands and an additional 7 of 42 probands with idiopathic ventricular fibrillation (VF2; 612956) from the Netherlands, Alders et al. (2009) identified a C-to-T transition 340 bases upstream from the ATG start site of isoform 2 of DPP6 (rs3807218). All 10 probands carried the same haplotype. The variant was not present in a control group of 350 Dutch individuals of European descent. The variant is associated with 20-fold increased expression in DPP6 mRNA levels in the myocardium of carriers as compared to controls.

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

Last Updated: Apr 20, 2024