11-3827993-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001665.4(RHOG):c.146G>A(p.Arg49His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001665.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RHOG | ENST00000351018.5 | c.146G>A | p.Arg49His | missense_variant | Exon 2 of 2 | 1 | NM_001665.4 | ENSP00000339467.4 | ||
RHOG | ENST00000396978.1 | c.146G>A | p.Arg49His | missense_variant | Exon 2 of 2 | 3 | ENSP00000380175.1 | |||
RHOG | ENST00000396979.1 | c.146G>A | p.Arg49His | missense_variant | Exon 2 of 2 | 3 | ENSP00000380176.1 | |||
RHOG | ENST00000533217.1 | c.146G>A | p.Arg49His | missense_variant | Exon 2 of 2 | 5 | ENSP00000436932.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251470Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135912
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.146G>A (p.R49H) alteration is located in exon 2 (coding exon 1) of the RHOG gene. This alteration results from a G to A substitution at nucleotide position 146, causing the arginine (R) at amino acid position 49 to be replaced by a histidine (H). 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