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NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

Allele description [Variation Report for NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)]

NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)

JPH2:junctophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
  • NC_000020.11:g.44159949C>T
  • NG_031867.1:g.32630G>A
  • NM_020433.5:c.838G>AMANE SELECT
  • NP_065166.2:p.Glu280Lys
  • NP_065166.2:p.Glu280Lys
  • LRG_394t1:c.838G>A
  • LRG_394:g.32630G>A
  • LRG_394p1:p.Glu280Lys
  • NC_000020.10:g.42788589C>T
  • NM_020433.4:c.838G>A
Protein change:
dbSNP: rs748282723
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_020433.5:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(May 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582294.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


A variant of uncertain significance has been identified in the JPH2 gene. The E280K variant has notbeen published as pathogenic or been reported as benign to our knowledge. The E280K variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition where amino acids with similar properties to glutamic acid (E) are tolerated across species. Insilico analysis predicts this variant is probably damaging to the protein structure/function.Nevertheless, this variant has not been observed in a significant number of affected individuals, and itlacks large segregation studies and functional evidence which would clarify its pathogenicity.Additionally, the E280K variant is observed in 8/12230 (0.06%) alleles from individuals of SouthAsian ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server).

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024