chr2-108753029-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_006267.5(RANBP2):c.1787G>T(p.Arg596Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,457,166 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R596Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_006267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RANBP2 | NM_006267.5 | c.1787G>T | p.Arg596Leu | missense_variant | 13/29 | ENST00000283195.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RANBP2 | ENST00000283195.11 | c.1787G>T | p.Arg596Leu | missense_variant | 13/29 | 1 | NM_006267.5 | P1 | |
RANBP2 | ENST00000697737.1 | c.1787G>T | p.Arg596Leu | missense_variant | 13/27 | ||||
RANBP2 | ENST00000697740.1 | c.1709G>T | p.Arg570Leu | missense_variant | 13/27 | ||||
RANBP2 | ENST00000495506.1 | n.476G>T | non_coding_transcript_exon_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000440 AC: 1AN: 227462Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 123726
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457166Hom.: 0 Cov.: 34 AF XY: 0.00000276 AC XY: 2AN XY: 724840
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at