12-55331707-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001388498.1(OR6C3):c.7C>T(p.His3Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_001388498.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR6C3 | NM_001388498.1 | c.7C>T | p.His3Tyr | missense_variant | Exon 2 of 2 | ENST00000641740.2 | NP_001375427.1 | |
OR6C3 | NM_054104.2 | c.7C>T | p.His3Tyr | missense_variant | Exon 2 of 2 | NP_473445.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1453946Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 722778
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.7C>T (p.H3Y) alteration is located in exon 1 (coding exon 1) of the OR6C3 gene. This alteration results from a C to T substitution at nucleotide position 7, causing the histidine (H) at amino acid position 3 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.