11-4999275-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004755.2(OR51L1):āc.293C>Gā(p.Ala98Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000991 in 1,614,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001004755.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR51L1 | NM_001004755.2 | c.293C>G | p.Ala98Gly | missense_variant | 3/3 | ENST00000641819.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51L1 | ENST00000641819.1 | c.293C>G | p.Ala98Gly | missense_variant | 3/3 | NM_001004755.2 | P1 | ||
OR51L1 | ENST00000641624.1 | n.587+1692C>G | intron_variant, non_coding_transcript_variant | ||||||
OR51L1 | ENST00000642056.1 | n.587+1692C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251360Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135836
GnomAD4 exome AF: 0.000108 AC: 158AN: 1461864Hom.: 0 Cov.: 40 AF XY: 0.000113 AC XY: 82AN XY: 727236
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2023 | The c.293C>G (p.A98G) alteration is located in exon 1 (coding exon 1) of the OR51L1 gene. This alteration results from a C to G substitution at nucleotide position 293, causing the alanine (A) at amino acid position 98 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at