11-5323376-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033180.5(OR51B2):c.922C>T(p.His308Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000303 in 1,609,422 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033180.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR51B2 | NM_033180.5 | c.922C>T | p.His308Tyr | missense_variant | 1/1 | ENST00000624187.1 | NP_149420.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR51B2 | ENST00000624187.1 | c.922C>T | p.His308Tyr | missense_variant | 1/1 | NM_033180.5 | ENSP00000485407 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152124Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000962 AC: 24AN: 249536Hom.: 0 AF XY: 0.000104 AC XY: 14AN XY: 134824
GnomAD4 exome AF: 0.000320 AC: 466AN: 1457298Hom.: 0 Cov.: 32 AF XY: 0.000312 AC XY: 226AN XY: 725074
GnomAD4 genome AF: 0.000138 AC: 21AN: 152124Hom.: 0 Cov.: 34 AF XY: 0.0000808 AC XY: 6AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2022 | The c.922C>T (p.H308Y) alteration is located in exon 1 (coding exon 1) of the OR51B2 gene. This alteration results from a C to T substitution at nucleotide position 922, causing the histidine (H) at amino acid position 308 to be replaced by a tyrosine (Y). 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