12-113191419-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032848.3(RITA1):c.412C>T(p.Arg138Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000059 in 1,609,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032848.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RITA1 | NM_032848.3 | c.412C>T | p.Arg138Cys | missense_variant | Exon 4 of 4 | ENST00000548278.2 | NP_116237.1 | |
RITA1 | NM_001286215.2 | c.484C>T | p.Arg162Cys | missense_variant | Exon 3 of 3 | NP_001273144.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RITA1 | ENST00000548278.2 | c.412C>T | p.Arg138Cys | missense_variant | Exon 4 of 4 | 1 | NM_032848.3 | ENSP00000449841.1 | ||
RITA1 | ENST00000552495.1 | c.484C>T | p.Arg162Cys | missense_variant | Exon 3 of 3 | 2 | ENSP00000448680.1 | |||
RITA1 | ENST00000549621.5 | c.412C>T | p.Arg138Cys | missense_variant | Exon 4 of 4 | 2 | ENSP00000448289.1 | |||
ENSG00000257286 | ENST00000552525.1 | n.69+674G>A | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 248906Hom.: 0 AF XY: 0.0000446 AC XY: 6AN XY: 134624
GnomAD4 exome AF: 0.0000570 AC: 83AN: 1457382Hom.: 0 Cov.: 31 AF XY: 0.0000594 AC XY: 43AN XY: 724306
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.412C>T (p.R138C) alteration is located in exon 4 (coding exon 2) of the RITA1 gene. This alteration results from a C to T substitution at nucleotide position 412, causing the arginine (R) at amino acid position 138 to be replaced by a cysteine (C). 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