19-15794298-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004466.2(OR10H5):c.250G>A(p.Asp84Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,442 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 (★).
Frequency
Consequence
NM_001004466.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR10H5 | NM_001004466.2 | c.250G>A | p.Asp84Asn | missense_variant | 2/2 | ENST00000642092.2 | NP_001004466.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR10H5 | ENST00000642092.2 | c.250G>A | p.Asp84Asn | missense_variant | 2/2 | NM_001004466.2 | ENSP00000493242.1 | |||
OR10H5 | ENST00000308940.8 | c.250G>A | p.Asp84Asn | missense_variant | 1/1 | 6 | ENSP00000310704.8 |
Frequencies
GnomAD3 genomes AF: 0.0000330 AC: 5AN: 151672Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250842Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135522
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461770Hom.: 0 Cov.: 78 AF XY: 0.00000688 AC XY: 5AN XY: 727164
GnomAD4 genome AF: 0.0000330 AC: 5AN: 151672Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74014
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2024 | The c.250G>A (p.D84N) alteration is located in exon 1 (coding exon 1) of the OR10H5 gene. This alteration results from a G to A substitution at nucleotide position 250, causing the aspartic acid (D) at amino acid position 84 to be replaced by an asparagine (N). 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