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NM_020433.5(JPH2):c.1794C>A (p.Ser598=) AND not provided

Germline classification:
Likely benign (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001699419.3

Allele description [Variation Report for NM_020433.5(JPH2):c.1794C>A (p.Ser598=)]

NM_020433.5(JPH2):c.1794C>A (p.Ser598=)

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.1794C>A (p.Ser598=)
HGVS:
  • NC_000020.11:g.44115881G>T
  • NG_031867.1:g.76698C>A
  • NM_020433.5:c.1794C>AMANE SELECT
  • NP_065166.2:p.Ser598=
  • NP_065166.2:p.Ser598=
  • LRG_394t1:c.1794C>A
  • LRG_394:g.76698C>A
  • LRG_394p1:p.Ser598=
  • NC_000020.10:g.42744521G>T
  • NM_020433.4:c.1794C>A
  • p.Ser598Ser
Links:
dbSNP: rs369883442
NCBI 1000 Genomes Browser:
rs369883442
Molecular consequence:
  • NM_020433.5:c.1794C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001926925Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001953391Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953391.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024