rs35283248
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003724.4(JRK):c.1508G>T(p.Arg503Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003724.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
JRK | ENST00000612905.2 | c.1508G>T | p.Arg503Leu | missense_variant | Exon 2 of 2 | 2 | NM_003724.4 | ENSP00000482410.1 | ||
JRK | ENST00000614134.1 | c.1508G>T | p.Arg503Leu | missense_variant | Exon 2 of 2 | 1 | ENSP00000485390.1 | |||
JRK | ENST00000571961.7 | c.1508G>T | p.Arg503Leu | missense_variant | Exon 2 of 3 | 1 | ENSP00000461610.1 | |||
JRK | ENST00000615982.4 | c.1508G>T | p.Arg503Leu | missense_variant | Exon 2 of 4 | 1 | ENSP00000483808.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000862 AC: 2AN: 231884Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127400
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at