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NM_001005242.3(PKP2):c.2357+1G>T AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2018
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:
RCV000183715.1

Allele description [Variation Report for NM_001005242.3(PKP2):c.2357+1G>T]

NM_001005242.3(PKP2):c.2357+1G>T

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.2357+1G>T
HGVS:
  • NC_000012.12:g.32796108C>A
  • NG_009000.1:g.105739G>T
  • NM_001005242.3:c.2357+1G>TMANE SELECT
  • NM_001407155.1:c.2168-3377G>T
  • NM_001407156.1:c.2192+1G>T
  • NM_001407158.1:c.2030+1G>T
  • NM_001407159.1:c.2030+1G>T
  • NM_001407160.1:c.1841-3377G>T
  • NM_004572.4:c.2489+1G>T
  • LRG_398t1:c.2489+1G>T
  • LRG_398:g.105739G>T
  • NC_000012.11:g.32949042C>A
  • NM_004572.3:c.2489+1G>T
  • c.2489+1G>T
Links:
dbSNP: rs111517471
NCBI 1000 Genomes Browser:
rs111517471
Molecular consequence:
  • NM_001407155.1:c.2168-3377G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407160.1:c.1841-3377G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005242.3:c.2357+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407156.1:c.2192+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407158.1:c.2030+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407159.1:c.2030+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004572.4:c.2489+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000236193GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 5, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236193.9

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

Description

c.2489+1 G>T: IVS12+1 G>T in intron 12 of the PKP2 gene (NM_004572.3). The c.2489+1 G>T mutation in the PKP2 gene has been published previously in association with ARVC (DenHaan et al., 2009). The mutation destroys the canonical splice donor site in intron 12 and is expected to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the PKP2 gene have been reported in association with ARVC. In summary, c.2489+1 G>T in the PKP2 gene is interpreted as a disease-causing mutation. The variant is found in ARVC panel(s).

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

Last Updated: Feb 20, 2024