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NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2022
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:
RCV002223273.1

Allele description [Variation Report for NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)]

NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)

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.1945A>G (p.Ser649Gly)
HGVS:
  • NC_000012.12:g.32821424T>C
  • NG_009000.1:g.80423A>G
  • NM_001005242.3:c.1945A>GMANE SELECT
  • NM_004572.4:c.2077A>G
  • NP_001005242.2:p.Ser649Gly
  • NP_004563.2:p.Ser693Gly
  • LRG_398t1:c.2077A>G
  • LRG_398:g.80423A>G
  • NC_000012.11:g.32974358T>C
  • NC_000012.11:g.32974358T>C
  • NM_004572.3:c.2077A>G
Protein change:
S649G
Links:
dbSNP: rs375295635
NCBI 1000 Genomes Browser:
rs375295635
Molecular consequence:
  • NM_001005242.3:c.1945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004572.4:c.2077A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002501057AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 18, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.

Hazebroek MR, Krapels I, Verdonschot J, van den Wijngaard A, Vanhoutte E, Hoos M, Snijders L, van Montfort L, Witjens M, Dennert R, Crijns HJGM, Brunner-La Rocca HP, Brunner HG, Heymans S.

Circ Heart Fail. 2018 Mar;11(3):e004682. doi: 10.1161/CIRCHEARTFAILURE.117.004682.

PubMed [citation]
PMID:
29540472

Implications of Genetic Testing in Dilated Cardiomyopathy.

Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG.

Circ Genom Precis Med. 2020 Oct;13(5):476-487. doi: 10.1161/CIRCGEN.120.003031. Epub 2020 Sep 3.

PubMed [citation]
PMID:
32880476
See all PubMed Citations (3)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002501057.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024