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NM_001005242.3(PKP2):c.1379-2068C>T AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 21, 2019
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:
RCV002390552.2

Allele description [Variation Report for NM_001005242.3(PKP2):c.1379-2068C>T]

NM_001005242.3(PKP2):c.1379-2068C>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.1379-2068C>T
HGVS:
  • NC_000012.12:g.32843273G>A
  • NG_009000.1:g.58574C>T
  • NM_001005242.3:c.1379-2068C>TMANE SELECT
  • NM_004572.4:c.1419C>T
  • NP_004563.2:p.Gly473=
  • NP_004563.2:p.Gly473=
  • LRG_398t1:c.1419C>T
  • LRG_398:g.58574C>T
  • LRG_398p1:p.Gly473=
  • NC_000012.11:g.32996207G>A
  • NM_004572.3:c.1419C>T
Links:
dbSNP: rs377424658
NCBI 1000 Genomes Browser:
rs377424658
Molecular consequence:
  • NM_001005242.3:c.1379-2068C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004572.4:c.1419C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002698547Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 21, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002698547.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024