U.S. flag

An official website of the United States government

NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile) AND Cardiomyopathy, dilated, 2E

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 2024
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:
RCV004763458.1

Allele description [Variation Report for NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)]

NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)

Gene:
JPH2:junctophilin 2 [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
HGVS:
  • NC_000020.11:g.44114813_44114814inv
  • NG_031867.1:g.77765_77766inv
  • NM_020433.5:c.2073_2074invMANE SELECT
  • NP_065166.2:p.Val692Ile
  • NP_065166.2:p.Val692Ile
  • LRG_394t1:c.2073_2074invTG
  • LRG_394:g.77765_77766inv
  • LRG_394p1:p.Val692Ile
  • NC_000020.10:g.42743453_42743454delinsTG
  • NC_000020.10:g.42743453_42743454inv
  • NM_020433.4:c.2073_2074delTGinsCA
  • NM_020433.4:c.2073_2074invTG
  • NM_020433.5:c.2073_2074delinsCAMANE SELECT
Protein change:
V692I
Molecular consequence:
  • NM_020433.5:c.2073_2074inv - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiomyopathy, dilated, 2E
Identifiers:
MONDO: MONDO:0030366; MedGen: C5561970; OMIM: 619492

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005373795KardioGenetik, Herz- und Diabeteszentrum NRW
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 13, 2024) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

Details of each submission

From KardioGenetik, Herz- und Diabeteszentrum NRW, SCV005373795.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024