rs61744535
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001004748.1(OR51A2):c.791G>T(p.Arg264Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000163 in 1,176,746 control chromosomes in the GnomAD database, including 52 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R264P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001004748.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR51A2 | NM_001004748.1 | c.791G>T | p.Arg264Leu | missense_variant | Exon 1 of 1 | ENST00000380371.1 | NP_001004748.1 | |
MMP26 | NM_021801.5 | c.-144-33145C>A | intron_variant | Intron 2 of 7 | ENST00000380390.6 | NP_068573.2 | ||
MMP26 | NM_001384608.1 | c.-152-33347C>A | intron_variant | Intron 2 of 7 | NP_001371537.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR51A2 | ENST00000380371.1 | c.791G>T | p.Arg264Leu | missense_variant | Exon 1 of 1 | 6 | NM_001004748.1 | ENSP00000369729.1 | ||
MMP26 | ENST00000380390.6 | c.-144-33145C>A | intron_variant | Intron 2 of 7 | 5 | NM_021801.5 | ENSP00000369753.1 | |||
MMP26 | ENST00000300762.2 | c.-152-33347C>A | intron_variant | Intron 2 of 7 | 1 | ENSP00000300762.2 |
Frequencies
GnomAD3 genomes AF: 0.000168 AC: 18AN: 107280Hom.: 5 Cov.: 17
GnomAD3 exomes AF: 0.0000662 AC: 13AN: 196396Hom.: 4 AF XY: 0.0000848 AC XY: 9AN XY: 106082
GnomAD4 exome AF: 0.000163 AC: 174AN: 1069466Hom.: 47 Cov.: 32 AF XY: 0.000165 AC XY: 89AN XY: 538314
GnomAD4 genome AF: 0.000168 AC: 18AN: 107280Hom.: 5 Cov.: 17 AF XY: 0.0000772 AC XY: 4AN XY: 51790
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at