19-9252032-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001079935.2(OR7E24):c.989A>G(p.His330Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000814 in 1,597,476 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H330Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001079935.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR7E24 | NM_001079935.2 | c.989A>G | p.His330Arg | missense_variant | 1/1 | ENST00000456448.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR7E24 | ENST00000456448.3 | c.989A>G | p.His330Arg | missense_variant | 1/1 | NM_001079935.2 | P2 | ||
OR7E24 | ENST00000641946.1 | c.977A>G | p.His326Arg | missense_variant | 2/2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152060Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000830 AC: 12AN: 1445416Hom.: 1 Cov.: 34 AF XY: 0.00000695 AC XY: 5AN XY: 719502
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152060Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2023 | The c.989A>G (p.H330R) alteration is located in exon 1 (coding exon 1) of the OR7E24 gene. This alteration results from a A to G substitution at nucleotide position 989, causing the histidine (H) at amino acid position 330 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