1-248294877-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001004692.2(OR2T12):c.702G>T(p.Lys234Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000105 in 1,612,190 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004692.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152082Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251138Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135722
GnomAD4 exome AF: 0.000101 AC: 148AN: 1459990Hom.: 0 Cov.: 104 AF XY: 0.0000991 AC XY: 72AN XY: 726326
GnomAD4 genome AF: 0.000145 AC: 22AN: 152200Hom.: 0 Cov.: 28 AF XY: 0.000161 AC XY: 12AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.702G>T (p.K234N) alteration is located in exon 1 (coding exon 1) of the OR2T12 gene. This alteration results from a G to T substitution at nucleotide position 702, causing the lysine (K) at amino acid position 234 to be replaced by an asparagine (N). 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