12-113186822-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032848.3(RITA1):c.76C>T(p.Arg26Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,714 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032848.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RITA1 | NM_032848.3 | c.76C>T | p.Arg26Trp | missense_variant | Exon 3 of 4 | ENST00000548278.2 | NP_116237.1 | |
RITA1 | NM_001286215.2 | c.148C>T | p.Arg50Trp | missense_variant | Exon 2 of 3 | NP_001273144.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249434Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135292
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461556Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727060
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.76C>T (p.R26W) alteration is located in exon 3 (coding exon 1) of the RITA1 gene. This alteration results from a C to T substitution at nucleotide position 76, causing the arginine (R) at amino acid position 26 to be replaced by a tryptophan (W). 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