11-56701165-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001005213.2(OR9G1):āc.778C>Gā(p.Leu260Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000958 in 1,461,882 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (ā ).
Frequency
Consequence
NM_001005213.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR9G1 | NM_001005213.2 | c.778C>G | p.Leu260Val | missense_variant | 2/2 | ENST00000642097.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR9G1 | ENST00000642097.1 | c.778C>G | p.Leu260Val | missense_variant | 2/2 | NM_001005213.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 64
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249218Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134914
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461882Hom.: 0 Cov.: 149 AF XY: 0.0000151 AC XY: 11AN XY: 727244
GnomAD4 genome Cov.: 64
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 07, 2024 | The c.778C>G (p.L260V) alteration is located in exon 1 (coding exon 1) of the OR9G1 gene. This alteration results from a C to G substitution at nucleotide position 778, causing the leucine (L) at amino acid position 260 to be replaced by a valine (V). 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