14-18601421-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001013354.1(OR11H12):c.305C>T(p.Ser102Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013354.1 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: 0.00 AC: 19AN: 146574Hom.: 0 Cov.: 25 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000755 AC: 11AN: 1457458Hom.: 0 Cov.: 35 AF XY: 0.00000690 AC XY: 5AN XY: 725054
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000130 AC: 19AN: 146692Hom.: 0 Cov.: 25 AF XY: 0.000112 AC XY: 8AN XY: 71498
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.305C>T (p.S102L) alteration is located in exon 1 (coding exon 1) of the OR11H12 gene. This alteration results from a C to T substitution at nucleotide position 305, causing the serine (S) at amino acid position 102 to be replaced by a leucine (L). 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