8-22995879-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001160037.2(RHOBTB2):c.8C>T(p.Ala3Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000129 in 1,399,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/15 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_001160037.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RHOBTB2 | NM_001160037.2 | c.8C>T | p.Ala3Val | missense_variant | Exon 1 of 10 | NP_001153509.1 | ||
RHOBTB2 | NM_001160036.2 | c.56+1240C>T | intron_variant | Intron 3 of 11 | NP_001153508.1 | |||
RHOBTB2 | XM_047421607.1 | c.56+1240C>T | intron_variant | Intron 3 of 11 | XP_047277563.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RHOBTB2 | ENST00000519685.5 | c.56+1240C>T | intron_variant | Intron 3 of 11 | 1 | ENSP00000427926.1 | ||||
RHOBTB2 | ENST00000522948.5 | c.8C>T | p.Ala3Val | missense_variant | Exon 1 of 10 | 5 | ENSP00000429141.1 | |||
RHOBTB2 | ENST00000524077.5 | c.56+1240C>T | intron_variant | Intron 3 of 5 | 3 | ENSP00000430785.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000454 AC: 7AN: 154102Hom.: 0 AF XY: 0.0000367 AC XY: 3AN XY: 81772
GnomAD4 exome AF: 0.0000129 AC: 18AN: 1399238Hom.: 0 Cov.: 30 AF XY: 0.00000580 AC XY: 4AN XY: 690136
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at