rs56066301
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001004748.1(OR51A2):c.799G>T(p.Gly267Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 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. G267R) has been classified as Benign.
Frequency
Consequence
NM_001004748.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR51A2 | NM_001004748.1 | c.799G>T | p.Gly267Trp | missense_variant | 1/1 | ENST00000380371.1 | |
MMP26 | NM_021801.5 | c.-144-33153C>A | intron_variant | ENST00000380390.6 | |||
MMP26 | NM_001384608.1 | c.-152-33355C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51A2 | ENST00000380371.1 | c.799G>T | p.Gly267Trp | missense_variant | 1/1 | NM_001004748.1 | P1 | ||
MMP26 | ENST00000380390.6 | c.-144-33153C>A | intron_variant | 5 | NM_021801.5 | P1 | |||
MMP26 | ENST00000300762.2 | c.-152-33355C>A | intron_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 94980Hom.: 0 Cov.: 15 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 993782Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 500944
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 94980Hom.: 0 Cov.: 15 AF XY: 0.00 AC XY: 0AN XY: 45858
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at