15-101818248-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001001674.2(OR4F15):c.62G>A(p.Arg21Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00395 in 1,613,838 control chromosomes in the GnomAD database, including 29 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001001674.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR4F15 | NM_001001674.2 | c.62G>A | p.Arg21Gln | missense_variant | 2/2 | ENST00000332238.5 | NP_001001674.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR4F15 | ENST00000332238.5 | c.62G>A | p.Arg21Gln | missense_variant | 2/2 | 6 | NM_001001674.2 | ENSP00000333184.4 |
Frequencies
GnomAD3 genomes AF: 0.00359 AC: 546AN: 152058Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00344 AC: 864AN: 251020Hom.: 3 AF XY: 0.00371 AC XY: 503AN XY: 135650
GnomAD4 exome AF: 0.00399 AC: 5837AN: 1461662Hom.: 25 Cov.: 31 AF XY: 0.00405 AC XY: 2944AN XY: 727126
GnomAD4 genome AF: 0.00358 AC: 545AN: 152176Hom.: 4 Cov.: 32 AF XY: 0.00331 AC XY: 246AN XY: 74402
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2023 | OR4F15: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at