NM_001004739.1:c.261C>G
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001004739.1(OR5L2):c.261C>G(p.Asn87Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000756 in 1,613,856 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004739.1 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000987 AC: 15AN: 152002Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000756 AC: 19AN: 251292 AF XY: 0.0000957 show subpopulations
GnomAD4 exome AF: 0.0000732 AC: 107AN: 1461854Hom.: 1 Cov.: 32 AF XY: 0.0000880 AC XY: 64AN XY: 727232 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000987 AC: 15AN: 152002Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74256 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.261C>G (p.N87K) alteration is located in exon 1 (coding exon 1) of the OR5L2 gene. This alteration results from a C to G substitution at nucleotide position 261, causing the asparagine (N) at amino acid position 87 to be replaced by a lysine (K). 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