chr11-56105073-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001386064.1(OR8H2):c.31G>A(p.Ala11Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A11P) has been classified as Likely benign.
Frequency
Consequence
NM_001386064.1 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 |
---|---|---|---|---|---|---|---|
OR8H2 | NM_001386064.1 | c.31G>A | p.Ala11Thr | missense_variant | 2/2 | ENST00000313503.2 | |
OR8H2 | NM_001005200.2 | c.31G>A | p.Ala11Thr | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR8H2 | ENST00000313503.2 | c.31G>A | p.Ala11Thr | missense_variant | 2/2 | NM_001386064.1 | P4 | ||
OR8H2 | ENST00000641311.1 | c.31G>A | p.Ala11Thr | missense_variant | 2/2 | P4 | |||
OR8H2 | ENST00000618136.1 | c.28G>A | p.Ala10Thr | missense_variant | 1/1 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.