rs61729486
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001282611.2(OLFM1):c.762C>A(p.Leu254Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,290 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.
Frequency
Consequence
NM_001282611.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLFM1 | NM_001282611.2 | c.762C>A | p.Leu254Leu | synonymous_variant | Exon 5 of 6 | ENST00000371793.8 | NP_001269540.1 | |
OLFM1 | NM_014279.5 | c.708C>A | p.Leu236Leu | synonymous_variant | Exon 5 of 6 | NP_055094.1 | ||
OLFM1 | NM_001282612.1 | c.681C>A | p.Leu227Leu | synonymous_variant | Exon 5 of 6 | NP_001269541.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459290Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 725764
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.