chr11-58031643-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005186.2(OR6Q1):āc.691C>Gā(p.His231Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001005186.2 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 |
---|---|---|---|---|---|---|---|
OR6Q1 | NM_001005186.2 | c.691C>G | p.His231Asp | missense_variant | 1/1 | ENST00000302622.4 | |
OR9Q1 | NM_001005212.4 | c.-93+7539C>G | intron_variant | ENST00000335397.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR6Q1 | ENST00000302622.4 | c.691C>G | p.His231Asp | missense_variant | 1/1 | NM_001005186.2 | P1 | ||
OR9Q1 | ENST00000335397.3 | c.-93+7539C>G | intron_variant | NM_001005212.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251094Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135684
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461642Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727106
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at