rs10414255
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001001958.1(OR7G3):āc.85A>Gā(p.Met29Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.33 in 1,612,858 control chromosomes in the GnomAD database, including 93,627 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_001001958.1 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 |
---|---|---|---|---|---|---|---|
OR7G3 | NM_001001958.1 | c.85A>G | p.Met29Val | missense_variant | 1/1 | ENST00000305444.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR7G3 | ENST00000305444.2 | c.85A>G | p.Met29Val | missense_variant | 1/1 | NM_001001958.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.404 AC: 61216AN: 151700Hom.: 14297 Cov.: 30
GnomAD3 exomes AF: 0.324 AC: 81219AN: 250856Hom.: 14511 AF XY: 0.320 AC XY: 43415AN XY: 135530
GnomAD4 exome AF: 0.323 AC: 471274AN: 1461040Hom.: 79306 Cov.: 35 AF XY: 0.321 AC XY: 233556AN XY: 726848
GnomAD4 genome ? AF: 0.404 AC: 61279AN: 151818Hom.: 14321 Cov.: 30 AF XY: 0.399 AC XY: 29629AN XY: 74192
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at