rs1233387
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_007160.4(OR2H2):c.143C>T(p.Ala48Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.287 in 949,472 control chromosomes in the GnomAD database, including 41,583 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.
Frequency
Consequence
NM_007160.4 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 |
---|---|---|---|---|---|---|---|
OR2H2 | NM_007160.4 | c.143C>T | p.Ala48Val | missense_variant | 2/2 | ENST00000641840.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2H2 | ENST00000641840.1 | c.143C>T | p.Ala48Val | missense_variant | 2/2 | NM_007160.4 | P1 | ||
OR2H2 | ENST00000383640.4 | c.143C>T | p.Ala48Val | missense_variant | 1/1 | P1 | |||
GABBR1 | ENST00000355973.7 | c.*2+15454G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.268 AC: 40603AN: 151766Hom.: 5623 Cov.: 31
GnomAD3 exomes AF: 0.302 AC: 74755AN: 247266Hom.: 12262 AF XY: 0.301 AC XY: 40469AN XY: 134640
GnomAD4 exome AF: 0.290 AC: 231667AN: 797588Hom.: 35952 Cov.: 12 AF XY: 0.292 AC XY: 123599AN XY: 422850
GnomAD4 genome AF: 0.267 AC: 40628AN: 151884Hom.: 5631 Cov.: 31 AF XY: 0.270 AC XY: 20072AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at