chr11-58031758-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001005186.2(OR6Q1):c.806C>T(p.Thr269Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000889 in 1,461,816 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 (★).
Frequency
Consequence
NM_001005186.2 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 |
---|---|---|---|---|---|---|---|
OR6Q1 | NM_001005186.2 | c.806C>T | p.Thr269Ile | missense_variant | 1/1 | ENST00000302622.4 | |
OR9Q1 | NM_001005212.4 | c.-93+7654C>T | intron_variant | ENST00000335397.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR6Q1 | ENST00000302622.4 | c.806C>T | p.Thr269Ile | missense_variant | 1/1 | NM_001005186.2 | P1 | ||
OR9Q1 | ENST00000335397.3 | c.-93+7654C>T | intron_variant | NM_001005212.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461816Hom.: 0 Cov.: 35 AF XY: 0.0000110 AC XY: 8AN XY: 727216
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at