11-123977285-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004474.2(OR10S1):c.380G>A(p.Arg127His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000154 in 1,614,002 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004474.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR10S1 | ENST00000641123.1 | c.380G>A | p.Arg127His | missense_variant | Exon 1 of 1 | NM_001004474.2 | ENSP00000493143.1 |
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251332Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135834
GnomAD4 exome AF: 0.000149 AC: 218AN: 1461862Hom.: 1 Cov.: 36 AF XY: 0.000144 AC XY: 105AN XY: 727234
GnomAD4 genome AF: 0.000197 AC: 30AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.000229 AC XY: 17AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.407G>A (p.R136H) alteration is located in exon 1 (coding exon 1) of the OR10S1 gene. This alteration results from a G to A substitution at nucleotide position 407, causing the arginine (R) at amino acid position 136 to be replaced by a histidine (H). 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