11-4954923-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001004748.1(OR51A2):c.791G>C(p.Arg264Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0002 in 1,176,860 control chromosomes in the GnomAD database, including 15 homozygotes. Variant has been reported in ClinVar 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>C | p.Arg264Pro | missense_variant | Exon 1 of 1 | ENST00000380371.1 | NP_001004748.1 | |
MMP26 | NM_021801.5 | c.-144-33145C>G | intron_variant | Intron 2 of 7 | ENST00000380390.6 | NP_068573.2 | ||
MMP26 | NM_001384608.1 | c.-152-33347C>G | 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>C | p.Arg264Pro | missense_variant | Exon 1 of 1 | 6 | NM_001004748.1 | ENSP00000369729.1 | ||
MMP26 | ENST00000380390.6 | c.-144-33145C>G | intron_variant | Intron 2 of 7 | 5 | NM_021801.5 | ENSP00000369753.1 | |||
MMP26 | ENST00000300762.2 | c.-152-33347C>G | intron_variant | Intron 2 of 7 | 1 | ENSP00000300762.2 |
Frequencies
GnomAD3 genomes AF: 0.000270 AC: 29AN: 107282Hom.: 6 Cov.: 17
GnomAD3 exomes AF: 0.000107 AC: 21AN: 196396Hom.: 1 AF XY: 0.000113 AC XY: 12AN XY: 106082
GnomAD4 exome AF: 0.000193 AC: 206AN: 1069462Hom.: 9 Cov.: 32 AF XY: 0.000165 AC XY: 89AN XY: 538310
GnomAD4 genome AF: 0.000270 AC: 29AN: 107398Hom.: 6 Cov.: 17 AF XY: 0.000193 AC XY: 10AN XY: 51906
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.791G>C (p.R264P) alteration is located in exon 1 (coding exon 1) of the OR51A2 gene. This alteration results from a G to C substitution at nucleotide position 791, causing the arginine (R) at amino acid position 264 to be replaced by a proline (P). 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