chr11-75089507-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001405852.1(OR2AT4):āc.207C>Gā(p.Ile69Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000202 in 1,614,044 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I69N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001405852.1 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR2AT4 | NM_001405852.1 | c.207C>G | p.Ile69Met | missense_variant | 2/2 | ENST00000641504.1 | |
OR2AT4 | NM_001005285.2 | c.207C>G | p.Ile69Met | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2AT4 | ENST00000641504.1 | c.207C>G | p.Ile69Met | missense_variant | 2/2 | NM_001405852.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152182Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000147 AC: 37AN: 251372Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135846
GnomAD4 exome AF: 0.000204 AC: 298AN: 1461862Hom.: 0 Cov.: 32 AF XY: 0.000205 AC XY: 149AN XY: 727232
GnomAD4 genome AF: 0.000184 AC: 28AN: 152182Hom.: 1 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2022 | The c.207C>G (p.I69M) alteration is located in exon 1 (coding exon 1) of the OR2AT4 gene. This alteration results from a C to G substitution at nucleotide position 207, causing the isoleucine (I) at amino acid position 69 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