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NM_001005242.3(PKP2):c.2167+1G>A AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 22, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000183774.4

Allele description [Variation Report for NM_001005242.3(PKP2):c.2167+1G>A]

NM_001005242.3(PKP2):c.2167+1G>A

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.2167+1G>A
HGVS:
  • NC_000012.12:g.32802402C>T
  • NG_009000.1:g.99445G>A
  • NM_001005242.3:c.2167+1G>AMANE SELECT
  • NM_001407155.1:c.2167+1G>A
  • NM_001407156.1:c.2002+1G>A
  • NM_001407158.1:c.1840+1G>A
  • NM_001407159.1:c.1840+1G>A
  • NM_001407160.1:c.1840+1G>A
  • NM_004572.4:c.2299+1G>A
  • LRG_398t1:c.2299+1G>A
  • LRG_398:g.99445G>A
  • NC_000012.11:g.32955336C>T
  • NM_004572.3:c.2299+1G>A
Links:
dbSNP: rs794729116
NCBI 1000 Genomes Browser:
rs794729116
Molecular consequence:
  • NM_001005242.3:c.2167+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407155.1:c.2167+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407156.1:c.2002+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407158.1:c.1840+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407159.1:c.1840+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407160.1:c.1840+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004572.4:c.2299+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236255GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(May 1, 2012)
germlineclinical testing

Citation Link,

SCV000748029Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 22, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000236255.9

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

Description

c.2299+1 G>A: IVS11+1 G>A in intron 11 of the PKP2 gene (NM_004572.3). The c.2299+1 G>A mutation in the PKP2 gene has also not been reported previously as a disease-causing mutation, however this mutation destroys the consensus splice donor site of intron 11 and is expected to cause abnormal gene splicing. Three splice prediction algorithms concur that c.2299+1 G>A results in the loss of the normal splice donor site. This mutation is predicted to lead to either an abnormal message, which is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In addition, other splice site mutations (c.2489+1 G>A, c.2489+4 C>A) in the PKP2 gene have been reported in association with ARVC (Van der Zwaag P et al., 2009). Therefore, c.2299+1 G>A in the PKP2 gene is interpreted to be 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

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV000748029.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025