11-3827618-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001665.4(RHOG):c.521G>A(p.Arg174Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000372 in 1,612,522 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.521G>A | p.Arg174Gln | missense_variant | Exon 2 of 2 | 1 | NM_001665.4 | ENSP00000339467.4 | ||
RHOG | ENST00000396978.1 | c.521G>A | p.Arg174Gln | missense_variant | Exon 2 of 2 | 3 | ENSP00000380175.1 | |||
RHOG | ENST00000396979.1 | c.521G>A | p.Arg174Gln | missense_variant | Exon 2 of 2 | 3 | ENSP00000380176.1 | |||
RHOG | ENST00000533217.1 | c.521G>A | p.Arg174Gln | missense_variant | Exon 2 of 2 | 5 | ENSP00000436932.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249390Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135076
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1460336Hom.: 0 Cov.: 31 AF XY: 0.0000427 AC XY: 31AN XY: 726558
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.521G>A (p.R174Q) 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 521, causing the arginine (R) at amino acid position 174 to be replaced by a glutamine (Q). 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