NM_001005242.3(PKP2):c.1379-5T>C AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2021
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:: RCV002392982.9

Allele description [Variation Report for NM_001005242.3(PKP2):c.1379-5T>C]

NM_001005242.3(PKP2):c.1379-5T>C

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.1379-5T>C

HGVS:

NC_000012.12:g.32841210A>G
NG_009000.1:g.60637T>C
NM_001005242.3:c.1379-5T>CMANE SELECT
NM_004572.4:c.1511-5T>C
LRG_398t1:c.1511-5T>C
LRG_398:g.60637T>C
NC_000012.11:g.32994144A>G
NM_004572.3:c.1511-5T>C

Links:

dbSNP: rs189036647

NCBI 1000 Genomes Browser:

rs189036647

Molecular consequence:

NM_001005242.3:c.1379-5T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_004572.4:c.1511-5T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Homo sapiens LIM zinc finger domain containing 2 (LIMS2), transcript variant 3, ...
Homo sapiens LIM zinc finger domain containing 2 (LIMS2), transcript variant 3, mRNA
gi|1813795618|ref|NM_001161403.3|

Nucleotide
Homo sapiens LIM and senescent cell antigen-like domains 2, mRNA (cDNA clone MGC...
Homo sapiens LIM and senescent cell antigen-like domains 2, mRNA (cDNA clone MGC:75000 IMAGE:6181259), complete cds
gi|41350928|gb|BC065816.1|

Nucleotide
zinc finger protein 593 [Cucurbita moschata]
zinc finger protein 593 [Cucurbita moschata]
gi|1279817909|ref|XP_022962632.1|

Protein
protein CNGC15b-like [Cucurbita moschata]
protein CNGC15b-like [Cucurbita moschata]
gi|1279830806|ref|XP_022925648.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002708532	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002708532

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2021)

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, SCV002708532.2

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

Description

The c.1511-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the PKP2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, 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: Oct 26, 2024

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