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NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2020
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:
RCV000493687.2

Allele description [Variation Report for NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)]

NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)

Gene:
JPH2:junctophilin 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
HGVS:
  • NC_000020.11:g.44115716CTT[2]
  • NG_031867.1:g.76855AAG[2]
  • NM_020433.5:c.1951AAG[2]MANE SELECT
  • NP_065166.2:p.Lys653del
  • LRG_394t1:c.1957_1959del
  • LRG_394:g.76855AAG[2]
  • NC_000020.10:g.42744356CTT[2]
  • NC_000020.10:g.42744356_42744358del
  • NM_020433.4:c.1957_1959del
  • NM_020433.4:c.1957_1959delAAG
  • NM_020433.5:c.1957_1959delMANE SELECT
Protein change:
K653del
Links:
dbSNP: rs111666278
NCBI 1000 Genomes Browser:
rs111666278
Molecular consequence:
  • NM_020433.5:c.1951AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000582851GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 22, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582851.5

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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

Last Updated: Feb 20, 2024