2-46576219-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_012249.4(RHOQ):c.334C>T(p.Pro112Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,455,996 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P112A) has been classified as Uncertain significance.
Frequency
Consequence
NM_012249.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RHOQ | NM_012249.4 | c.334C>T | p.Pro112Ser | missense_variant | Exon 3 of 5 | ENST00000238738.9 | NP_036381.2 | |
RHOQ | XM_011532726.3 | c.334C>T | p.Pro112Ser | missense_variant | Exon 3 of 6 | XP_011531028.1 | ||
RHOQ | XM_005264229.3 | c.202-4709C>T | intron_variant | Intron 2 of 2 | XP_005264286.1 | |||
RHOQ-AS1 | NR_104182.1 | n.204+3816G>A | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1455996Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 724732
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.