NM_020433.5(JPH2):c.278G>A (p.Arg93His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000519697.6

Allele description [Variation Report for NM_020433.5(JPH2):c.278G>A (p.Arg93His)]

NM_020433.5(JPH2):c.278G>A (p.Arg93His)

Gene:

JPH2:junctophilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_020433.5(JPH2):c.278G>A (p.Arg93His)

HGVS:

NC_000020.11:g.44186428C>T
NG_031867.1:g.6151G>A
NM_020433.5:c.278G>AMANE SELECT
NM_175913.4:c.278G>A
NP_065166.2:p.Arg93His
NP_065166.2:p.Arg93His
NP_787109.2:p.Arg93His
LRG_394t1:c.278G>A
LRG_394:g.6151G>A
LRG_394p1:p.Arg93His
NC_000020.10:g.42815068C>T
NM_020433.4:c.278G>A

Protein change:

R93H

Links:

dbSNP: rs1131692244

NCBI 1000 Genomes Browser:

rs1131692244

Molecular consequence:

NM_020433.5:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_175913.4:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000619740	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 4, 2017)	germline	clinical testing	Citation Link,
SCV004154585	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Feb 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000619740

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 4, 2017)

germline

clinical testing

Citation Link,

SCV004154585

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Feb 1, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000619740.1

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

Description

A variant of uncertain significance has been identified in the JPH2 gene. The R93H variant has not been published as pathogenic or been reported as benign to our knowledge. The R93H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R93H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004154585.5

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

Description

JPH2: PM2

#	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		1	not provided	not provided	not provided

Last Updated: May 12, 2024

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