11-55603446-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001004700.3(OR4C11):c.928G>A(p.Gly310Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000655 in 1,389,418 control chromosomes in the GnomAD database, including 18 homozygotes. 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_001004700.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR4C11 | NM_001004700.3 | c.928G>A | p.Gly310Arg | missense_variant | 4/4 | ENST00000641580.1 | NP_001004700.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR4C11 | ENST00000641580.1 | c.928G>A | p.Gly310Arg | missense_variant | 4/4 | NM_001004700.3 | ENSP00000492971.1 |
Frequencies
GnomAD3 genomes AF: 0.0000145 AC: 2AN: 137930Hom.: 0 Cov.: 25
GnomAD3 exomes AF: 0.0000878 AC: 17AN: 193678Hom.: 1 AF XY: 0.000144 AC XY: 15AN XY: 104388
GnomAD4 exome AF: 0.0000711 AC: 89AN: 1251488Hom.: 18 Cov.: 25 AF XY: 0.000103 AC XY: 64AN XY: 622976
GnomAD4 genome AF: 0.0000145 AC: 2AN: 137930Hom.: 0 Cov.: 25 AF XY: 0.0000150 AC XY: 1AN XY: 66804
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.928G>A (p.G310R) alteration is located in exon 1 (coding exon 1) of the OR4C11 gene. This alteration results from a G to A substitution at nucleotide position 928, causing the glycine (G) at amino acid position 310 to be replaced by an arginine (R). 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