chrX-38369882-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000531.6(OTC):c.298+5G>A variant causes a splice donor 5th base, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000531.6 splice_donor_5th_base, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTC | NM_000531.6 | c.298+5G>A | splice_donor_5th_base_variant, intron_variant | ENST00000039007.5 | |||
OTC | NM_001407092.1 | c.298+5G>A | splice_donor_5th_base_variant, intron_variant | ||||
OTC | XM_017029556.2 | c.298+5G>A | splice_donor_5th_base_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTC | ENST00000039007.5 | c.298+5G>A | splice_donor_5th_base_variant, intron_variant | 1 | NM_000531.6 | P1 | |||
OTC | ENST00000643344.1 | c.298+5G>A | splice_donor_5th_base_variant, intron_variant, NMD_transcript_variant | ||||||
OTC | ENST00000488812.1 | n.353+42G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1039832Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 313636
GnomAD4 genome ? Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at