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NM_001005242.3(PKP2):c.2108del (p.Lys703fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 15, 2018)
Last evaluated:
Nov 16, 2016
Accession:
VCV000635228.1
Variation ID:
635228
Description:
1bp deletion
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NM_001005242.3(PKP2):c.2108del (p.Lys703fs)

Allele ID
623071
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32802462 (GRCh38) GRCh38 UCSC
12: 32955396 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.32955400del
NC_000012.12:g.32802466del
NG_009000.1:g.99385del
... more HGVS
Protein change
K747fs, K703fs
Other names
-
Canonical SPDI
NC_000012.12:32802461:TTTTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1565574709
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 16, 2016 RCV000786187.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKP2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1150 1184

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 16, 2016)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000924895.1
Submitted: (Aug 15, 2018)
Evidence details
Comment:
Given the absence in controls and the variant type we consider this variant likely disease causing (aka likely pathogenic) and we do feel it is … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1565574709...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021