rs121918271
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM5BP4_Moderate
The NM_022370.4(ROBO3):c.2108G>A(p.Arg703Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000509 in 1,612,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 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. R703P) has been classified as Likely pathogenic.
Frequency
Consequence
NM_022370.4 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 |
---|---|---|---|---|---|---|---|
ROBO3 | NM_022370.4 | c.2108G>A | p.Arg703Gln | missense_variant | 14/28 | ENST00000397801.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROBO3 | ENST00000397801.6 | c.2108G>A | p.Arg703Gln | missense_variant | 14/28 | 1 | NM_022370.4 | P2 | |
ROBO3 | ENST00000538940.5 | c.2042G>A | p.Arg681Gln | missense_variant | 13/27 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000106 AC: 26AN: 246146Hom.: 0 AF XY: 0.000127 AC XY: 17AN XY: 133684
GnomAD4 exome AF: 0.0000493 AC: 72AN: 1460170Hom.: 0 Cov.: 33 AF XY: 0.0000496 AC XY: 36AN XY: 726284
GnomAD4 genome ? AF: 0.0000656 AC: 10AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74490
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at