rs12065526
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001004492.2(OR2B11):c.878C>T(p.Thr293Ile) variant causes a missense change. The variant allele was found at a frequency of 0.136 in 1,512,254 control chromosomes in the GnomAD database, including 15,196 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001004492.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2B11 | NM_001004492.2 | c.878C>T | p.Thr293Ile | missense_variant | 2/2 | ENST00000641149.2 | NP_001004492.1 | |
OR2B11 | NR_169840.1 | n.1532C>T | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2B11 | ENST00000641149.2 | c.878C>T | p.Thr293Ile | missense_variant | 2/2 | NM_001004492.2 | ENSP00000492892.1 | |||
OR2B11 | ENST00000641527.1 | c.878C>T | p.Thr293Ile | missense_variant | 3/3 | ENSP00000493421.1 | ||||
OR2B11 | ENST00000641613.1 | n.1532C>T | non_coding_transcript_exon_variant | 5/5 |
Frequencies
GnomAD3 genomes AF: 0.153 AC: 23211AN: 151986Hom.: 1958 Cov.: 32
GnomAD3 exomes AF: 0.128 AC: 23036AN: 179832Hom.: 1769 AF XY: 0.127 AC XY: 11966AN XY: 94236
GnomAD4 exome AF: 0.134 AC: 182727AN: 1360150Hom.: 13231 Cov.: 31 AF XY: 0.132 AC XY: 88023AN XY: 665800
GnomAD4 genome AF: 0.153 AC: 23244AN: 152104Hom.: 1965 Cov.: 32 AF XY: 0.148 AC XY: 11041AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at