rs9257770
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_030876.6(OR5V1):āc.135T>Gā(p.Ile45Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0219 in 1,613,862 control chromosomes in the GnomAD database, including 451 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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_030876.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR5V1 | NM_030876.6 | c.135T>G | p.Ile45Met | missense_variant | 2/2 | ENST00000641768.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR5V1 | ENST00000641768.1 | c.135T>G | p.Ile45Met | missense_variant | 2/2 | NM_030876.6 | P1 | ||
OR5V1 | ENST00000377154.1 | c.135T>G | p.Ile45Met | missense_variant | 4/4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0182 AC: 2774AN: 152034Hom.: 36 Cov.: 32
GnomAD3 exomes AF: 0.0201 AC: 5044AN: 250920Hom.: 80 AF XY: 0.0208 AC XY: 2823AN XY: 135648
GnomAD4 exome AF: 0.0222 AC: 32496AN: 1461710Hom.: 415 Cov.: 36 AF XY: 0.0224 AC XY: 16310AN XY: 727136
GnomAD4 genome ? AF: 0.0183 AC: 2777AN: 152152Hom.: 36 Cov.: 32 AF XY: 0.0182 AC XY: 1355AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at