9-124787092-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182487.4(OLFML2A):c.208C>T(p.Arg70Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,614,036 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182487.4 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLFML2A | NM_182487.4 | c.208C>T | p.Arg70Cys | missense_variant | Exon 2 of 8 | ENST00000373580.8 | NP_872293.2 | |
OLFML2A | XM_006716989.3 | c.208C>T | p.Arg70Cys | missense_variant | Exon 2 of 7 | XP_006717052.1 | ||
OLFML2A | XM_005251760.6 | c.208C>T | p.Arg70Cys | missense_variant | Exon 2 of 7 | XP_005251817.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OLFML2A | ENST00000373580.8 | c.208C>T | p.Arg70Cys | missense_variant | Exon 2 of 8 | 1 | NM_182487.4 | ENSP00000362682.3 | ||
OLFML2A | ENST00000331715.13 | c.208C>T | p.Arg70Cys | missense_variant | Exon 2 of 5 | 2 | ENSP00000336425.7 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249328Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135302
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461820Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727218
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.208C>T (p.R70C) alteration is located in exon 2 (coding exon 2) of the OLFML2A gene. This alteration results from a C to T substitution at nucleotide position 208, causing the arginine (R) at amino acid position 70 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