chr11-58423174-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001005566.3(OR5B2):āc.88A>Gā(p.Thr30Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000178 in 1,461,462 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 ).
Frequency
Consequence
NM_001005566.3 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 |
---|---|---|---|---|---|---|---|
OR5B2 | NM_001005566.3 | c.88A>G | p.Thr30Ala | missense_variant | 3/3 | ENST00000641342.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR5B2 | ENST00000641342.2 | c.88A>G | p.Thr30Ala | missense_variant | 3/3 | NM_001005566.3 | P1 | ||
OR5B2 | ENST00000302581.2 | c.88A>G | p.Thr30Ala | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000916 AC: 23AN: 250984Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135608
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461462Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 727038
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at