11-56376104-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001005204.1(OR8U1):āc.481A>Gā(p.Ile161Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000375 in 1,614,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001005204.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000381 AC: 58AN: 152274Hom.: 0 Cov.: 58
GnomAD3 exomes AF: 0.000412 AC: 102AN: 247598Hom.: 0 AF XY: 0.000402 AC XY: 54AN XY: 134460
GnomAD4 exome AF: 0.000375 AC: 548AN: 1461752Hom.: 0 Cov.: 157 AF XY: 0.000367 AC XY: 267AN XY: 727174
GnomAD4 genome AF: 0.000381 AC: 58AN: 152274Hom.: 0 Cov.: 58 AF XY: 0.000376 AC XY: 28AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.481A>G (p.I161V) alteration is located in exon 1 (coding exon 1) of the OR8U1 gene. This alteration results from a A to G substitution at nucleotide position 481, causing the isoleucine (I) at amino acid position 161 to be replaced by a valine (V). 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