chr5-95793148-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014899.4(RHOBTB3):c.1810C>T(p.Arg604Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000453 in 1,611,030 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014899.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RHOBTB3 | NM_014899.4 | c.1810C>T | p.Arg604Trp | missense_variant | Exon 12 of 12 | ENST00000379982.8 | NP_055714.3 | |
RHOBTB3 | XM_011543279.3 | c.1444C>T | p.Arg482Trp | missense_variant | Exon 11 of 11 | XP_011541581.1 | ||
RHOBTB3 | XM_017009237.2 | c.1228C>T | p.Arg410Trp | missense_variant | Exon 12 of 12 | XP_016864726.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000763 AC: 19AN: 249080Hom.: 0 AF XY: 0.0000594 AC XY: 8AN XY: 134726
GnomAD4 exome AF: 0.0000473 AC: 69AN: 1458880Hom.: 0 Cov.: 29 AF XY: 0.0000482 AC XY: 35AN XY: 725816
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1810C>T (p.R604W) alteration is located in exon 12 (coding exon 12) of the RHOBTB3 gene. This alteration results from a C to T substitution at nucleotide position 1810, causing the arginine (R) at amino acid position 604 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at