chr11-58119152-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005211.2(OR9I1):c.293C>T(p.Ala98Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,912 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 (★).
Frequency
Consequence
NM_001005211.2 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 |
---|---|---|---|---|---|---|---|
OR9I1 | NM_001005211.2 | c.293C>T | p.Ala98Val | missense_variant | 3/3 | ENST00000641439.1 | |
OR9Q1 | NM_001005212.4 | c.-14-60279G>A | intron_variant | ENST00000335397.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR9I1 | ENST00000641439.1 | c.293C>T | p.Ala98Val | missense_variant | 3/3 | NM_001005211.2 | P1 | ||
OR9Q1 | ENST00000335397.3 | c.-14-60279G>A | intron_variant | NM_001005212.4 | P1 | ||||
OR9I1 | ENST00000641478.1 | c.293C>T | p.Ala98Val | missense_variant | 3/3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250814Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135522
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461694Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727132
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 26, 2022 | The c.293C>T (p.A98V) alteration is located in exon 1 (coding exon 1) of the OR9I1 gene. This alteration results from a C to T substitution at nucleotide position 293, causing the alanine (A) at amino acid position 98 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