3-98283068-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001005482.2(OR5H2):c.166C>T(p.His56Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,758 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005482.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR5H2 | NM_001005482.2 | c.166C>T | p.His56Tyr | missense_variant | Exon 1 of 1 | ENST00000355273.3 | NP_001005482.2 | |
LOC105373999 | XR_001740814.2 | n.71-3180G>A | intron_variant | Intron 1 of 3 | ||||
LOC105373999 | XR_924258.2 | n.216-5593G>A | intron_variant | Intron 1 of 2 | ||||
LOC105373999 | XR_924259.2 | n.71-3180G>A | intron_variant | Intron 1 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251326Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135826
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461758Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 727174
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.181C>T (p.H61Y) alteration is located in exon 1 (coding exon 1) of the OR5H2 gene. This alteration results from a C to T substitution at nucleotide position 181, causing the histidine (H) at amino acid position 61 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