11-7796017-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153444.1(OR5P2):āc.926A>Gā(p.Asp309Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000194 in 1,595,548 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_153444.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR5P2 | NM_153444.1 | c.926A>G | p.Asp309Gly | missense_variant | 1/1 | ENST00000329434.3 | NP_703145.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR5P2 | ENST00000329434.3 | c.926A>G | p.Asp309Gly | missense_variant | 1/1 | 6 | NM_153444.1 | ENSP00000331823.2 | ||
ENSG00000271758 | ENST00000527565.1 | n.542+82990A>G | intron_variant | 3 | ||||||
ENSG00000254951 | ENST00000529488.5 | n.532-41496A>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000677 AC: 1AN: 147660Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248916Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134620
GnomAD4 exome AF: 0.0000207 AC: 30AN: 1447888Hom.: 0 Cov.: 32 AF XY: 0.0000208 AC XY: 15AN XY: 720934
GnomAD4 genome AF: 0.00000677 AC: 1AN: 147660Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 72010
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 17, 2024 | The c.926A>G (p.D309G) alteration is located in exon 1 (coding exon 1) of the OR5P2 gene. This alteration results from a A to G substitution at nucleotide position 926, causing the aspartic acid (D) at amino acid position 309 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