20-44114802-CAG-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_020433.5(JPH2):c.2083_2084delCT(p.Leu695AspfsTer16) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020433.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
The c.2083_2084delCT variant, located in coding exon 5 of the JPH2 gene, results from a deletion of two nucleotides at nucleotide positions 2083 to 2084, causing a translational frameshift with a predicted alternate stop codon (p.L695Dfs*16). This alteration occurs at the 3' terminus of theJPH2 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by thirteen amino acids. This frameshift impacts the last twoamino acids of the native protein. The exact functional effect of the altered amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.