7-144258886-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005328.2(OR2A7):c.743G>A(p.Gly248Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G248V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001005328.2 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 |
---|---|---|---|---|---|---|---|---|
OR2A7 | NM_001005328.2 | c.743G>A | p.Gly248Glu | missense_variant | Exon 2 of 2 | ENST00000641841.1 | NP_001005328.1 | |
ARHGEF35-AS1 | NR_126022.1 | n.494-21586C>T | intron_variant | Intron 2 of 4 | ||||
OR2A1-AS1 | NR_126023.1 | n.608-19143G>A | intron_variant | Intron 3 of 4 | ||||
ARHGEF34P | NR_033942.1 | n.*110G>A | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461534Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727076
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at