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NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 8, 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:
RCV000825436.4

Allele description [Variation Report for NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)]

NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)

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.1888G>A (p.Val630Met)
HGVS:
  • NC_000012.12:g.32821481C>T
  • NG_009000.1:g.80366G>A
  • NM_001005242.3:c.1888G>AMANE SELECT
  • NM_004572.4:c.2020G>A
  • NP_001005242.2:p.Val630Met
  • NP_004563.2:p.Val674Met
  • NP_004563.2:p.Val674Met
  • LRG_398t1:c.2020G>A
  • LRG_398:g.80366G>A
  • LRG_398p1:p.Val674Met
  • NC_000012.11:g.32974415C>T
  • NM_004572.3:c.2020G>A
  • p.Val674Met
Protein change:
V630M
Links:
dbSNP: rs143038626
NCBI 1000 Genomes Browser:
rs143038626
Molecular consequence:
  • NM_001005242.3:c.1888G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004572.4:c.2020G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000966734Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Mar 8, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown21not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000966734.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Val674Met variant in PKP2 has not been previously reported in individuals with cardiomyopathy but has been reported by other clinical laboratories in ClinVar (Variation ID 464418). In addition, it has been identified in 0.05% (13/24958) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide evidence for or against impact to the protein. In summary, while the clinical significance of the p.Val674Met variant is uncertain, its frequency in the general population suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not provided1not provided

Last Updated: Feb 28, 2024