chr2-26537754-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_194248.3(OTOF):āc.100G>Cā(p.Val34Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000713 in 1,402,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V34I) has been classified as Likely benign.
Frequency
Consequence
NM_194248.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTOF | NM_194248.3 | c.100G>C | p.Val34Leu | missense_variant | 2/47 | ENST00000272371.7 | |
OTOF | NM_001287489.2 | c.100G>C | p.Val34Leu | missense_variant | 2/46 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOF | ENST00000272371.7 | c.100G>C | p.Val34Leu | missense_variant | 2/47 | 1 | NM_194248.3 | A1 | |
OTOF | ENST00000403946.7 | c.100G>C | p.Val34Leu | missense_variant | 2/46 | 5 | P4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000617 AC: 1AN: 162192Hom.: 0 AF XY: 0.0000117 AC XY: 1AN XY: 85470
GnomAD4 exome AF: 7.13e-7 AC: 1AN: 1402598Hom.: 0 Cov.: 30 AF XY: 0.00000144 AC XY: 1AN XY: 692162
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at