NM_001146033.1:c.769G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001146033.1(OR56A5):c.769G>T(p.Val257Phe) 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001146033.1 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 |
---|---|---|---|---|---|---|---|---|
OR56A5 | NM_001146033.1 | c.769G>T | p.Val257Phe | missense_variant | Exon 1 of 1 | ENST00000532411.2 | NP_001139505.1 | |
OR56A3 | XM_047426926.1 | c.*468+18964C>A | intron_variant | Intron 3 of 5 | XP_047282882.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.769G>T (p.V257F) alteration is located in exon 1 (coding exon 1) of the OR56A5 gene. This alteration results from a G to T substitution at nucleotide position 769, causing the valine (V) at amino acid position 257 to be replaced by a phenylalanine (F). 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