rs149455886
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006917.5(RXRG):c.182C>T(p.Thr61Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. T61N) has been classified as Uncertain significance.
Frequency
Consequence
NM_006917.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RXRG | ENST00000359842.10 | c.182C>T | p.Thr61Ile | missense_variant | Exon 2 of 10 | 1 | NM_006917.5 | ENSP00000352900.5 | ||
RXRG | ENST00000619224.1 | c.-246C>T | 5_prime_UTR_variant | Exon 2 of 11 | 1 | ENSP00000482458.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at