rs2073152
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013936.4(OR12D2):āc.362C>Gā(p.Ser121Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.259 in 1,612,350 control chromosomes in the GnomAD database, including 56,985 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 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_013936.4 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 |
---|---|---|---|---|---|---|---|
OR12D2 | NM_013936.4 | c.362C>G | p.Ser121Cys | missense_variant | 2/2 | ENST00000642051.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR12D2 | ENST00000642051.1 | c.362C>G | p.Ser121Cys | missense_variant | 2/2 | NM_013936.4 | P1 | ||
OR12D2 | ENST00000623183.1 | c.362C>G | p.Ser121Cys | missense_variant | 1/1 | P1 | |||
OR5V1 | ENST00000377154.1 | c.-83+25546G>C | intron_variant | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.222 AC: 33788AN: 152016Hom.: 4153 Cov.: 32
GnomAD3 exomes AF: 0.231 AC: 56777AN: 246238Hom.: 7343 AF XY: 0.229 AC XY: 30749AN XY: 134184
GnomAD4 exome AF: 0.263 AC: 383956AN: 1460216Hom.: 52834 Cov.: 46 AF XY: 0.260 AC XY: 188665AN XY: 726464
GnomAD4 genome ? AF: 0.222 AC: 33790AN: 152134Hom.: 4151 Cov.: 32 AF XY: 0.221 AC XY: 16428AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at