rs1958715
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001004717.1(OR4L1):c.4G>A(p.Asp2Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.42 in 1,453,402 control chromosomes in the GnomAD database, including 132,996 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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_001004717.1 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 |
---|---|---|---|---|---|---|---|
OR4L1 | NM_001004717.1 | c.4G>A | p.Asp2Asn | missense_variant | 1/1 | ENST00000315683.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR4L1 | ENST00000315683.1 | c.4G>A | p.Asp2Asn | missense_variant | 1/1 | NM_001004717.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.442 AC: 67015AN: 151682Hom.: 15285 Cov.: 31
GnomAD3 exomes AF: 0.440 AC: 77638AN: 176278Hom.: 18247 AF XY: 0.442 AC XY: 41213AN XY: 93290
GnomAD4 exome AF: 0.417 AC: 543309AN: 1301602Hom.: 117678 Cov.: 21 AF XY: 0.423 AC XY: 270671AN XY: 640102
GnomAD4 genome ? AF: 0.442 AC: 67105AN: 151800Hom.: 15318 Cov.: 31 AF XY: 0.445 AC XY: 33006AN XY: 74178
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at