11-5301747-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033179.2(OR51B4):c.200C>T(p.Thr67Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000824 in 1,613,982 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033179.2 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 |
---|---|---|---|---|---|---|---|
OR51B4 | NM_033179.2 | c.200C>T | p.Thr67Met | missense_variant | 1/1 | ENST00000380224.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51B4 | ENST00000380224.2 | c.200C>T | p.Thr67Met | missense_variant | 1/1 | NM_033179.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000916 AC: 23AN: 251052Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135668
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461692Hom.: 0 Cov.: 62 AF XY: 0.0000701 AC XY: 51AN XY: 727138
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152290Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 29, 2023 | The c.200C>T (p.T67M) alteration is located in exon 1 (coding exon 1) of the OR51B4 gene. This alteration results from a C to T substitution at nucleotide position 200, causing the threonine (T) at amino acid position 67 to be replaced by a methionine (M). 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