rs4997760
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_194248.3(OTOF):c.2703G>T(p.Ser901=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000414 in 1,450,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S901S) has been classified as Likely benign.
Frequency
Consequence
NM_194248.3 synonymous
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTOF | NM_194248.3 | c.2703G>T | p.Ser901= | synonymous_variant | 23/47 | ENST00000272371.7 | |
OTOF | NM_194323.3 | c.462G>T | p.Ser154= | synonymous_variant | 6/29 | ENST00000339598.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOF | ENST00000272371.7 | c.2703G>T | p.Ser901= | synonymous_variant | 23/47 | 1 | NM_194248.3 | A1 | |
OTOF | ENST00000339598.8 | c.462G>T | p.Ser154= | synonymous_variant | 6/29 | 1 | NM_194323.3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000173 AC: 4AN: 231158Hom.: 0 AF XY: 0.0000156 AC XY: 2AN XY: 127846
GnomAD4 exome AF: 0.00000414 AC: 6AN: 1450608Hom.: 0 Cov.: 35 AF XY: 0.00000554 AC XY: 4AN XY: 721948
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at