19-8731254-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004699.3(OR2Z1):c.226G>T(p.Val76Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000356 in 1,461,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004699.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2Z1 | NM_001004699.3 | c.226G>T | p.Val76Phe | missense_variant | 3/3 | ENST00000641125.1 | NP_001004699.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2Z1 | ENST00000641125.1 | c.226G>T | p.Val76Phe | missense_variant | 3/3 | NM_001004699.3 | ENSP00000493322.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461880Hom.: 0 Cov.: 33 AF XY: 0.0000289 AC XY: 21AN XY: 727244
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 12, 2023 | The c.226G>T (p.V76F) alteration is located in exon 1 (coding exon 1) of the OR2Z1 gene. This alteration results from a G to T substitution at nucleotide position 226, causing the valine (V) at amino acid position 76 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