NM_001005242.3(PKP2):c.1644A>T (p.Gly548=) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 2020
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:: RCV000518880.3

Allele description [Variation Report for NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)]

NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)

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.1644A>T (p.Gly548=)

HGVS:

NC_000012.12:g.32824075T>A
NG_009000.1:g.77772A>T
NM_001005242.3:c.1644A>TMANE SELECT
NM_004572.4:c.1776A>T
NP_001005242.2:p.Gly548=
NP_004563.2:p.Gly592=
NP_004563.2:p.Gly592=
LRG_398t1:c.1776A>T
LRG_398:g.77772A>T
LRG_398p1:p.Gly592=
NC_000012.11:g.32977009T>A
NM_004572.3:c.1776A>T

Links:

dbSNP: rs1555143127

NCBI 1000 Genomes Browser:

rs1555143127

Molecular consequence:

NM_001005242.3:c.1644A>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004572.4:c.1776A>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000618689	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 11, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000618689

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 11, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000618689.4

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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

Last Updated: Sep 29, 2024

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