11-4999404-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001004755.2(OR51L1):c.422G>T(p.Ser141Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000144 in 1,614,172 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001004755.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR51L1 | NM_001004755.2 | c.422G>T | p.Ser141Ile | missense_variant | Exon 3 of 3 | ENST00000641819.1 | NP_001004755.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR51L1 | ENST00000641819.1 | c.422G>T | p.Ser141Ile | missense_variant | Exon 3 of 3 | NM_001004755.2 | ENSP00000493015.1 | |||
OR51L1 | ENST00000641624.1 | n.587+1821G>T | intron_variant | Intron 2 of 3 | ||||||
OR51L1 | ENST00000642056.1 | n.587+1821G>T | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.000723 AC: 110AN: 152160Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000235 AC: 59AN: 251408Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135876
GnomAD4 exome AF: 0.0000841 AC: 123AN: 1461894Hom.: 0 Cov.: 38 AF XY: 0.0000811 AC XY: 59AN XY: 727248
GnomAD4 genome AF: 0.000722 AC: 110AN: 152278Hom.: 2 Cov.: 32 AF XY: 0.000712 AC XY: 53AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at