rs2572023
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001005276.1(OR2AE1):c.230T>C(p.Ile77Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.526 in 1,613,364 control chromosomes in the GnomAD database, including 229,798 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I77V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001005276.1 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 | UniProt |
---|---|---|---|---|---|---|---|
OR2AE1 | NM_001005276.1 | c.230T>C | p.Ile77Thr | missense_variant | 1/1 | ENST00000316368.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2AE1 | ENST00000316368.3 | c.230T>C | p.Ile77Thr | missense_variant | 1/1 | NM_001005276.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.597 AC: 90607AN: 151764Hom.: 29098 Cov.: 30
GnomAD3 exomes AF: 0.509 AC: 127943AN: 251396Hom.: 34465 AF XY: 0.503 AC XY: 68275AN XY: 135862
GnomAD4 exome AF: 0.519 AC: 758023AN: 1461482Hom.: 200648 Cov.: 48 AF XY: 0.515 AC XY: 374506AN XY: 727078
GnomAD4 genome ? AF: 0.597 AC: 90714AN: 151882Hom.: 29150 Cov.: 30 AF XY: 0.590 AC XY: 43799AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at