NM_001005337.3(PKP1):c.347G>A (p.Arg116His) AND PKP1-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 21, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003920195.2

Allele description [Variation Report for NM_001005337.3(PKP1):c.347G>A (p.Arg116His)]

NM_001005337.3(PKP1):c.347G>A (p.Arg116His)

Gene:

PKP1:plakophilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_001005337.3(PKP1):c.347G>A (p.Arg116His)

HGVS:

NC_000001.11:g.201313206G>A
NG_023337.1:g.34755G>A
NM_000299.4:c.347G>A
NM_001005337.3:c.347G>AMANE SELECT
NP_000290.2:p.Arg116His
NP_001005337.1:p.Arg116His
NC_000001.10:g.201282334G>A
NM_001005337.2:c.347G>A
Q13835:p.Arg116His

Protein change:

R116H

Links:

UniProtKB: Q13835#VAR_033526; dbSNP: rs34626929

NCBI 1000 Genomes Browser:

rs34626929

Molecular consequence:

NM_000299.4:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001005337.3:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PKP1-related disorder
Synonyms:: PKP1-related condition
Identifiers:

Recent activity

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putative coiled-coil domain-containing protein 196 isoform X4 [Homo sapiens]
putative coiled-coil domain-containing protein 196 isoform X4 [Homo sapiens]
gi|2462540386|ref|XP_054232104.1|

Protein
Mycobacterium leprae Kyoto-2
Mycobacterium leprae Kyoto-2
Mycobacterium leprae Kyoto-2 genome sequencing project.

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004737139	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Jan 21, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004737139

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Jan 21, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004737139.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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