9-135119543-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001282611.2(OLFM1):c.823C>T(p.Arg275Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,613,226 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_001282611.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLFM1 | NM_001282611.2 | c.823C>T | p.Arg275Cys | missense_variant | Exon 6 of 6 | ENST00000371793.8 | NP_001269540.1 | |
OLFM1 | NM_014279.5 | c.769C>T | p.Arg257Cys | missense_variant | Exon 6 of 6 | NP_055094.1 | ||
OLFM1 | NM_001282612.1 | c.742C>T | p.Arg248Cys | missense_variant | Exon 6 of 6 | NP_001269541.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250888Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135580
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461030Hom.: 0 Cov.: 32 AF XY: 0.0000234 AC XY: 17AN XY: 726718
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.769C>T (p.R257C) alteration is located in exon 6 (coding exon 6) of the OLFM1 gene. This alteration results from a C to T substitution at nucleotide position 769, causing the arginine (R) at amino acid position 257 to be replaced by a cysteine (C). 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