rs1151640
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001005487.2(OR13G1):c.394A>G(p.Ile132Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.432 in 1,613,520 control chromosomes in the GnomAD database, including 155,796 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_001005487.2 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 | UniProt |
---|---|---|---|---|---|---|---|
OR13G1 | NM_001005487.2 | c.394A>G | p.Ile132Val | missense_variant | 2/2 | ENST00000642119.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR13G1 | ENST00000642119.1 | c.394A>G | p.Ile132Val | missense_variant | 2/2 | NM_001005487.2 | P1 | ||
ENST00000662798.1 | n.666+32219T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.371 AC: 56268AN: 151792Hom.: 11781 Cov.: 32
GnomAD3 exomes AF: 0.458 AC: 114803AN: 250916Hom.: 28215 AF XY: 0.453 AC XY: 61470AN XY: 135582
GnomAD4 exome AF: 0.438 AC: 640088AN: 1461612Hom.: 144004 Cov.: 58 AF XY: 0.438 AC XY: 318168AN XY: 727092
GnomAD4 genome ? AF: 0.371 AC: 56291AN: 151908Hom.: 11792 Cov.: 32 AF XY: 0.374 AC XY: 27767AN XY: 74240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at