1-158480112-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001395749.1(OR10R2):āc.202A>Gā(p.Met68Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000958 in 1,461,402 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M68I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001395749.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR10R2 | NM_001395749.1 | c.202A>G | p.Met68Val | missense_variant | 2/2 | ENST00000641067.1 | |
LOC107985213 | XR_001738258.2 | n.386-5445T>C | intron_variant, non_coding_transcript_variant | ||||
OR10R2 | NM_001004472.1 | c.235A>G | p.Met79Val | missense_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR10R2 | ENST00000641067.1 | c.202A>G | p.Met68Val | missense_variant | 2/2 | NM_001395749.1 | P4 | ||
ENST00000419738.1 | n.2176T>C | non_coding_transcript_exon_variant | 2/3 | 2 | |||||
OR10R2 | ENST00000641400.1 | c.202A>G | p.Met68Val | missense_variant | 1/1 | A2 | |||
ENST00000426251.1 | n.217-5445T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251160Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135736
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461402Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727058
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 27, 2023 | The c.235A>G (p.M79V) alteration is located in exon 1 (coding exon 1) of the OR10R2 gene. This alteration results from a A to G substitution at nucleotide position 235, causing the methionine (M) at amino acid position 79 to be replaced by a valine (V). 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