chr19-15087939-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004713.2(OR1I1):āc.874A>Gā(p.Ile292Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,748 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I292T) has been classified as Likely benign.
Frequency
Consequence
NM_001004713.2 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 |
---|---|---|---|---|---|---|---|
OR1I1 | NM_001004713.2 | c.874A>G | p.Ile292Val | missense_variant | 2/2 | ENST00000641398.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR1I1 | ENST00000641398.1 | c.874A>G | p.Ile292Val | missense_variant | 2/2 | NM_001004713.2 | P1 | ||
OR1I1 | ENST00000209540.2 | c.874A>G | p.Ile292Val | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461748Hom.: 0 Cov.: 65 AF XY: 0.00000138 AC XY: 1AN XY: 727170
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 15, 2024 | The c.874A>G (p.I292V) alteration is located in exon 1 (coding exon 1) of the OR1I1 gene. This alteration results from a A to G substitution at nucleotide position 874, causing the isoleucine (I) at amino acid position 292 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
Publications
No publications associated with this variant yet.