2-46543072-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012249.4(RHOQ):c.26T>A(p.Met9Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000212 in 1,604,750 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHOQ | NM_012249.4 | c.26T>A | p.Met9Lys | missense_variant | 1/5 | ENST00000238738.9 | |
RHOQ | XM_011532726.3 | c.26T>A | p.Met9Lys | missense_variant | 1/6 | ||
RHOQ | XM_005264229.3 | c.26T>A | p.Met9Lys | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHOQ | ENST00000238738.9 | c.26T>A | p.Met9Lys | missense_variant | 1/5 | 1 | NM_012249.4 | P1 | |
RHOQ | ENST00000432183.5 | c.26T>A | p.Met9Lys | missense_variant, NMD_transcript_variant | 1/3 | 5 | |||
RHOQ | ENST00000465198.1 | n.155+1112T>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151510Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000417 AC: 1AN: 239728Hom.: 0 AF XY: 0.00000762 AC XY: 1AN XY: 131174
GnomAD4 exome AF: 0.0000206 AC: 30AN: 1453240Hom.: 0 Cov.: 31 AF XY: 0.0000235 AC XY: 17AN XY: 723000
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151510Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 73966
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at