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NM_020433.5(JPH2):c.412C>A (p.Arg138Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2018
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:
RCV000788684.2

Allele description [Variation Report for NM_020433.5(JPH2):c.412C>A (p.Arg138Ser)]

NM_020433.5(JPH2):c.412C>A (p.Arg138Ser)

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.412C>A (p.Arg138Ser)
HGVS:
  • NC_000020.11:g.44160375G>T
  • NG_031867.1:g.32204C>A
  • NM_020433.5:c.412C>AMANE SELECT
  • NP_065166.2:p.Arg138Ser
  • NP_065166.2:p.Arg138Ser
  • LRG_394t1:c.412C>A
  • LRG_394:g.32204C>A
  • LRG_394p1:p.Arg138Ser
  • NC_000020.10:g.42789015G>T
  • NM_020433.4:c.412C>A
Protein change:
R138S
Links:
dbSNP: rs1312146372
NCBI 1000 Genomes Browser:
rs1312146372
Molecular consequence:
  • NM_020433.5:c.412C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000927879Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Uncertain significance
(Aug 24, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927879.1

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

Last Updated: May 7, 2024