chr12-55321175-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001005182.2(OR6C1):āc.576C>Gā(p.Phe192Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,690 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 ).
Frequency
Consequence
NM_001005182.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR6C1 | NM_001005182.2 | c.576C>G | p.Phe192Leu | missense_variant | 2/2 | ENST00000642104.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR6C1 | ENST00000642104.1 | c.576C>G | p.Phe192Leu | missense_variant | 2/2 | NM_001005182.2 | P1 | ||
OR6C1 | ENST00000379668.3 | c.576C>G | p.Phe192Leu | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250774Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135524
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461690Hom.: 0 Cov.: 37 AF XY: 0.00000550 AC XY: 4AN XY: 727158
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.576C>G (p.F192L) alteration is located in exon 1 (coding exon 1) of the OR6C1 gene. This alteration results from a C to G substitution at nucleotide position 576, causing the phenylalanine (F) at amino acid position 192 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