11-6846178-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_178168.1(OR10A5):āc.496A>Gā(p.Ser166Gly) 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 1,614,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_178168.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR10A5 | NM_178168.1 | c.496A>G | p.Ser166Gly | missense_variant | 1/1 | ENST00000299454.5 | NP_835462.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251264Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135788
GnomAD4 exome AF: 0.000315 AC: 460AN: 1461884Hom.: 0 Cov.: 33 AF XY: 0.000325 AC XY: 236AN XY: 727244
GnomAD4 genome AF: 0.000191 AC: 29AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.496A>G (p.S166G) alteration is located in exon 1 (coding exon 1) of the OR10A5 gene. This alteration results from a A to G substitution at nucleotide position 496, causing the serine (S) at amino acid position 166 to be replaced by a glycine (G). 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