rs188582283
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001395656.1(ROBO2):āc.2443C>Gā(p.Arg815Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,613,518 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. R815W) has been classified as Likely benign.
Frequency
Consequence
NM_001395656.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROBO2 | NM_001395656.1 | c.2443C>G | p.Arg815Gly | missense_variant | 17/28 | ENST00000696593.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROBO2 | ENST00000696593.1 | c.2443C>G | p.Arg815Gly | missense_variant | 17/28 | NM_001395656.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151968Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248880Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135004
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461550Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727090
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151968Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74218
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at