1-247451077-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004492.2(OR2B11):c.906G>C(p.Lys302Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000529 in 1,511,360 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004492.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2B11 | NM_001004492.2 | c.906G>C | p.Lys302Asn | missense_variant | Exon 2 of 2 | ENST00000641149.2 | NP_001004492.1 | |
OR2B11 | NR_169840.1 | n.1560G>C | non_coding_transcript_exon_variant | Exon 5 of 5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2B11 | ENST00000641149.2 | c.906G>C | p.Lys302Asn | missense_variant | Exon 2 of 2 | NM_001004492.2 | ENSP00000492892.1 | |||
OR2B11 | ENST00000641527.1 | c.906G>C | p.Lys302Asn | missense_variant | Exon 3 of 3 | ENSP00000493421.1 | ||||
OR2B11 | ENST00000641613.1 | n.1560G>C | non_coding_transcript_exon_variant | Exon 5 of 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000226 AC: 4AN: 177360Hom.: 0 AF XY: 0.0000108 AC XY: 1AN XY: 92994
GnomAD4 exome AF: 0.00000441 AC: 6AN: 1359182Hom.: 0 Cov.: 29 AF XY: 0.00000301 AC XY: 2AN XY: 664214
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.906G>C (p.K302N) alteration is located in exon 1 (coding exon 1) of the OR2B11 gene. This alteration results from a G to C substitution at nucleotide position 906, causing the lysine (K) at amino acid position 302 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