rs996818726
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001286745.3(OTUD6B):c.-332C>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001286745.3 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OTUD6B | NM_016023.5 | c.112C>G | p.Pro38Ala | missense_variant | Exon 2 of 7 | ENST00000404789.8 | NP_057107.4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152004Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250630Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135492
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461200Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726920
GnomAD4 genome AF: 0.0000395 AC: 6AN: 152004Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74238
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.202C>G (p.P68A) alteration is located in exon 2 (coding exon 2) of the OTUD6B gene. This alteration results from a C to G substitution at nucleotide position 202, causing the proline (P) at amino acid position 68 to be replaced by an alanine (A). 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