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NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Aug 18, 2021
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:
RCV001655673.3

Allele description [Variation Report for NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)]

NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)
HGVS:
  • NC_000012.12:g.32896571_32896592del
  • NG_009000.1:g.5259_5280del
  • NM_001005242.3:c.144_165delMANE SELECT
  • NM_004572.4:c.144_165del
  • NP_001005242.2:p.Gln49fs
  • NP_004563.2:p.Gln49fs
  • NP_004563.2:p.Gln49fs
  • LRG_398t1:c.144_165del
  • LRG_398:g.5259_5280del
  • LRG_398p1:p.Gln49fs
  • NC_000012.11:g.33049501_33049522del
  • NC_000012.11:g.33049505_33049526del
  • NM_004572.3:c.144_165del
  • NM_004572.3:c.144_165del22
Protein change:
Q49fs
Links:
dbSNP: rs930283260
NCBI 1000 Genomes Browser:
rs930283260
Molecular consequence:
  • NM_001005242.3:c.144_165del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004572.4:c.144_165del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001871087GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Jun 21, 2021)
germlineclinical testing

Citation Link,

SCV002502726AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Aug 18, 2021)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP.

Mol Genet Genomic Med. 2019 Jun;7(6):e593. doi: 10.1002/mgg3.593. Epub 2019 Apr 15.

PubMed [citation]
PMID:
30985088
PMCID:
PMC6565596

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, SCV001871087.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in ClinVar (ClinVar Variant ID#856786; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533)

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

From AiLife Diagnostics, AiLife Diagnostics, SCV002502726.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024