1-248626738-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001964.2(OR2T11):c.391G>T(p.Val131Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000035 in 1,430,508 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001964.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244558Hom.: 0 AF XY: 0.00000755 AC XY: 1AN XY: 132386
GnomAD4 exome AF: 0.00000350 AC: 5AN: 1430508Hom.: 1 Cov.: 38 AF XY: 0.00000421 AC XY: 3AN XY: 711852
GnomAD4 genome Cov.: 28
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391G>T (p.V131F) alteration is located in exon 1 (coding exon 1) of the OR2T11 gene. This alteration results from a G to T substitution at nucleotide position 391, causing the valine (V) at amino acid position 131 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