NM_020433.5:c.*14+207_*14+216dupACACACACAC
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_020433.5(JPH2):c.*14+207_*14+216dupACACACACAC variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000028 ( 0 hom., cov: 0)
Consequence
JPH2
NM_020433.5 intron
NM_020433.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.794
Publications
0 publications found
Genes affected
JPH2 (HGNC:14202): (junctophilin 2) Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
JPH2 Gene-Disease associations (from GenCC):
- hypertrophic cardiomyopathy 17Inheritance: AD Classification: STRONG, MODERATE Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae)
- cardiomyopathy, dilated, 2EInheritance: Unknown, AR Classification: STRONG, LIMITED Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics
- hypertrophic cardiomyopathyInheritance: AD Classification: MODERATE Submitted by: ClinGen
- dilated cardiomyopathyInheritance: SD Classification: MODERATE Submitted by: ClinGen
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000282 AC: 4AN: 141906Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
4
AN:
141906
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
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Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000282 AC: 4AN: 142004Hom.: 0 Cov.: 0 AF XY: 0.0000585 AC XY: 4AN XY: 68392 show subpopulations
GnomAD4 genome
AF:
AC:
4
AN:
142004
Hom.:
Cov.:
0
AF XY:
AC XY:
4
AN XY:
68392
show subpopulations
African (AFR)
AF:
AC:
1
AN:
38316
American (AMR)
AF:
AC:
0
AN:
14168
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3348
East Asian (EAS)
AF:
AC:
0
AN:
4608
South Asian (SAS)
AF:
AC:
0
AN:
4076
European-Finnish (FIN)
AF:
AC:
2
AN:
9056
Middle Eastern (MID)
AF:
AC:
0
AN:
270
European-Non Finnish (NFE)
AF:
AC:
1
AN:
65310
Other (OTH)
AF:
AC:
0
AN:
1970
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.513
Heterozygous variant carriers
0
1
1
2
2
3
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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