6-29440536-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013941.4(OR10C1):āc.521C>Gā(p.Pro174Arg) 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P174Q) has been classified as Likely benign.
Frequency
Consequence
NM_013941.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR10C1 | NM_013941.4 | c.521C>G | p.Pro174Arg | missense_variant | 1/1 | ENST00000444197.3 | |
OR11A1 | NM_001394828.1 | c.-388-8549G>C | intron_variant | ENST00000377149.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR10C1 | ENST00000444197.3 | c.521C>G | p.Pro174Arg | missense_variant | 1/1 | NM_013941.4 | P1 | ||
OR11A1 | ENST00000377149.5 | c.-388-8549G>C | intron_variant | NM_001394828.1 | P1 | ||||
OR10C1 | ENST00000622521.1 | c.527C>G | p.Pro176Arg | missense_variant | 1/1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461446Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727036
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at