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NM_001005242.3(PKP2):c.410A>C (p.Glu137Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2024
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:
RCV004519049.1

Allele description [Variation Report for NM_001005242.3(PKP2):c.410A>C (p.Glu137Ala)]

NM_001005242.3(PKP2):c.410A>C (p.Glu137Ala)

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.410A>C (p.Glu137Ala)
HGVS:
  • NC_000012.12:g.32878470T>G
  • NG_009000.1:g.23377A>C
  • NG_125461.1:g.422T>G
  • NM_001005242.3:c.410A>CMANE SELECT
  • NM_001407155.1:c.410A>C
  • NM_001407156.1:c.410A>C
  • NM_001407157.1:c.410A>C
  • NM_001407158.1:c.83A>C
  • NM_001407159.1:c.83A>C
  • NM_001407160.1:c.83A>C
  • NM_001407161.1:c.410A>C
  • NM_001407162.1:c.83A>C
  • NM_004572.4:c.410A>C
  • NP_001005242.2:p.Glu137Ala
  • NP_001394084.1:p.Glu137Ala
  • NP_001394085.1:p.Glu137Ala
  • NP_001394086.1:p.Glu137Ala
  • NP_001394087.1:p.Glu28Ala
  • NP_001394088.1:p.Glu28Ala
  • NP_001394089.1:p.Glu28Ala
  • NP_001394090.1:p.Glu137Ala
  • NP_001394091.1:p.Glu28Ala
  • NP_004563.2:p.Glu137Ala
  • NP_004563.2:p.Glu137Ala
  • LRG_398t1:c.410A>C
  • LRG_398:g.23377A>C
  • LRG_398p1:p.Glu137Ala
  • NC_000012.11:g.33031404T>G
  • NM_004572.3:c.410A>C
Protein change:
E137A
Molecular consequence:
  • NM_001005242.3:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407155.1:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407156.1:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407157.1:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407158.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407159.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407160.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407161.1:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407162.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004572.4:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005022659Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 22, 2024) 		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, SCV005022659.1

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

Description

The p.E137A variant (also known as c.410A>C), located in coding exon 3 of the PKP2 gene, results from an A to C substitution at nucleotide position 410. The glutamic acid at codon 137 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024