9-134434199-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002957.6(RXRA):c.1233G>T(p.Gln411His) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002957.6 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 |
---|---|---|---|---|---|---|---|---|
RXRA | NM_002957.6 | c.1233G>T | p.Gln411His | missense_variant | Exon 9 of 10 | ENST00000481739.2 | NP_002948.1 | |
RXRA | NM_001291920.2 | c.1152G>T | p.Gln384His | missense_variant | Exon 9 of 10 | NP_001278849.1 | ||
RXRA | NM_001291921.2 | c.942G>T | p.Gln314His | missense_variant | Exon 8 of 9 | NP_001278850.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RXRA | ENST00000481739.2 | c.1233G>T | p.Gln411His | missense_variant | Exon 9 of 10 | 1 | NM_002957.6 | ENSP00000419692.1 | ||
RXRA | ENST00000672570.1 | c.1152G>T | p.Gln384His | missense_variant | Exon 9 of 10 | ENSP00000500402.1 | ||||
RXRA | ENST00000356384.4 | n.1643G>T | non_coding_transcript_exon_variant | Exon 11 of 12 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1233G>T (p.Q411H) alteration is located in exon 9 (coding exon 9) of the RXRA gene. This alteration results from a G to T substitution at nucleotide position 1233, causing the glutamine (Q) at amino acid position 411 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
Publications
No publications associated with this variant yet.