19-9251111-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_001079935.2(OR7E24):āc.68A>Gā(p.Asn23Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,613,544 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 (ā ).
Frequency
Consequence
NM_001079935.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR7E24 | ENST00000456448.3 | c.68A>G | p.Asn23Ser | missense_variant | Exon 1 of 1 | 6 | NM_001079935.2 | ENSP00000387523.1 | ||
OR7E24 | ENST00000641946.1 | c.56A>G | p.Asn19Ser | missense_variant | Exon 2 of 2 | ENSP00000494223.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151996Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249938Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135590
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461430Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727022
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.68A>G (p.N23S) 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 68, causing the asparagine (N) at amino acid position 23 to be replaced by a serine (S). 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