11-56105355-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001386064.1(OR8H2):āc.313G>Cā(p.Ala105Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,613,764 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_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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR8H2 | NM_001386064.1 | c.313G>C | p.Ala105Pro | missense_variant | 2/2 | ENST00000313503.2 | NP_001372993.1 | |
OR8H2 | NM_001005200.2 | c.313G>C | p.Ala105Pro | missense_variant | 2/2 | NP_001005200.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR8H2 | ENST00000313503.2 | c.313G>C | p.Ala105Pro | missense_variant | 2/2 | 6 | NM_001386064.1 | ENSP00000323982.1 | ||
OR8H2 | ENST00000641311.1 | c.313G>C | p.Ala105Pro | missense_variant | 2/2 | ENSP00000493031.1 | ||||
OR8H2 | ENST00000618136.1 | c.310G>C | p.Ala104Pro | missense_variant | 1/1 | 6 | ENSP00000482661.1 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 151872Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251422Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135878
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461892Hom.: 0 Cov.: 34 AF XY: 0.0000206 AC XY: 15AN XY: 727246
GnomAD4 genome AF: 0.000158 AC: 24AN: 151872Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74138
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 14, 2024 | The c.313G>C (p.A105P) alteration is located in exon 1 (coding exon 1) of the OR8H2 gene. This alteration results from a G to C substitution at nucleotide position 313, causing the alanine (A) at amino acid position 105 to be replaced by a proline (P). 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