NM_003628.6(PKP4):c.3275C>G (p.Pro1092Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 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:: RCV004174931.1

Allele description [Variation Report for NM_003628.6(PKP4):c.3275C>G (p.Pro1092Arg)]

NM_003628.6(PKP4):c.3275C>G (p.Pro1092Arg)

Genes:

PKP4-AS1:PKP4 antisense RNA 1 [Gene - HGNC]
PKP4:plakophilin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

Preferred name:

NM_003628.6(PKP4):c.3275C>G (p.Pro1092Arg)

HGVS:

NC_000002.12:g.158678599C>G
NM_001005476.4:c.3146C>G
NM_001304969.3:c.3272C>G
NM_001304970.3:c.2246C>G
NM_001377218.1:c.3275C>G
NM_001377219.1:c.3272C>G
NM_001377220.1:c.3272C>G
NM_001377221.1:c.3272C>G
NM_001377222.1:c.3269C>G
NM_001377223.1:c.3269C>G
NM_001377224.1:c.3266C>G
NM_001377225.1:c.3146C>G
NM_001377226.1:c.3143C>G
NM_003628.6:c.3275C>GMANE SELECT
NP_001005476.1:p.Pro1049Arg
NP_001291898.1:p.Pro1091Arg
NP_001291899.1:p.Pro749Arg
NP_001364147.1:p.Pro1092Arg
NP_001364148.1:p.Pro1091Arg
NP_001364149.1:p.Pro1091Arg
NP_001364150.1:p.Pro1091Arg
NP_001364151.1:p.Pro1090Arg
NP_001364152.1:p.Pro1090Arg
NP_001364153.1:p.Pro1089Arg
NP_001364154.1:p.Pro1049Arg
NP_001364155.1:p.Pro1048Arg
NP_003619.2:p.Pro1092Arg
NC_000002.11:g.159535111C>G
NM_003628.3:c.3275C>G

Protein change:

P1048R

Molecular consequence:

NM_001005476.4:c.3146C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304969.3:c.3272C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304970.3:c.2246C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377218.1:c.3275C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377219.1:c.3272C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377220.1:c.3272C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377221.1:c.3272C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377222.1:c.3269C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377223.1:c.3269C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377224.1:c.3266C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377225.1:c.3146C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377226.1:c.3143C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003628.6:c.3275C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Rattus norvegicus SET domain containing 3, actin N3(tau)-histidine me...
PREDICTED: Rattus norvegicus SET domain containing 3, actin N3(tau)-histidine methyltransferase (Setd3), transcript variant X4, mRNA
gi|2678950998|ref|XM_063261781.1|

Nucleotide
hypothetical protein [Amaricoccus sp.]
hypothetical protein [Amaricoccus sp.]
gi|2648217468|ref|WP_324374889.1|

Protein
cytochrome c [Amaricoccus sp.]
cytochrome c [Amaricoccus sp.]
gi|2648217477|ref|WP_324374898.1|

Protein
phage terminase large subunit family protein, partial [Amaricoccus sp.]
phage terminase large subunit family protein, partial [Amaricoccus sp.]
gi|2648217589|ref|WP_324375010.1|

Protein
C0608C04-3 NIA Mouse Trophoblast Stem Cell cDNA Library (Long) Mus musculus cDNA...
C0608C04-3 NIA Mouse Trophoblast Stem Cell cDNA Library (Long) Mus musculus cDNA clone NIA:C0608C04 IMAGE:30020955 3', mRNA sequence
gi|31531242|gnl|dbEST|18594411|gb|B 33.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003668021	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 2, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003668021

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 2, 2022)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV003668021.2

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

Description

The c.3275C>G (p.P1092R) alteration is located in exon 21 (coding exon 20) of the PKP4 gene. This alteration results from a C to G substitution at nucleotide position 3275, causing the proline (P) at amino acid position 1092 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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