NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) AND Hypertrophic cardiomyopathy 17

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 31, 2017
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:: RCV000625203.10

Allele description [Variation Report for NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)]

NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)

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.128A>G (p.Asn43Ser)

Other names:

p.N43S:AAC>AGC

HGVS:

NC_000020.11:g.44186578T>C
NG_031867.1:g.6001A>G
NM_020433.5:c.128A>GMANE SELECT
NM_175913.4:c.128A>G
NP_065166.2:p.Asn43Ser
NP_065166.2:p.Asn43Ser
NP_787109.2:p.Asn43Ser
LRG_394t1:c.128A>G
LRG_394:g.6001A>G
LRG_394p1:p.Asn43Ser
NC_000020.10:g.42815218T>C
NM_020433.4:c.128A>G

Protein change:

N43S

Links:

dbSNP: rs138992849

NCBI 1000 Genomes Browser:

rs138992849

Molecular consequence:

NM_020433.5:c.128A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_175913.4:c.128A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypertrophic cardiomyopathy 17
Synonyms:: Familial hypertrophic cardiomyopathy 17
Identifiers:: MONDO: MONDO:0013474; MedGen: C3151264; OMIM: 613873

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000744117	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Uncertain significance (May 31, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000744117

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Uncertain significance
(May 31, 2017)

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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744117.1

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

#	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: Apr 20, 2024

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