chr11-5352232-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004750.1(OR51B6):āc.725A>Cā(p.His242Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000434 in 1,614,030 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. H242R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001004750.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR51B6 | NM_001004750.1 | c.725A>C | p.His242Pro | missense_variant | 1/1 | ENST00000380219.1 | |
OR51B5 | NM_001005567.3 | c.-359-5322T>G | intron_variant | ||||
OR51B5 | NR_038321.2 | n.85-5322T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51B6 | ENST00000380219.1 | c.725A>C | p.His242Pro | missense_variant | 1/1 | NM_001004750.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251202Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135772
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461840Hom.: 0 Cov.: 40 AF XY: 0.0000481 AC XY: 35AN XY: 727220
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152190Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 08, 2022 | The c.725A>C (p.H242P) alteration is located in exon 1 (coding exon 1) of the OR51B6 gene. This alteration results from a A to C substitution at nucleotide position 725, causing the histidine (H) at amino acid position 242 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