chr6-29440280-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013941.4(OR10C1):c.265C>T(p.Arg89Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000471 in 1,613,860 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 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. R89S) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR10C1 | NM_013941.4 | c.265C>T | p.Arg89Cys | missense_variant | 1/1 | ENST00000444197.3 | |
OR11A1 | NM_001394828.1 | c.-388-8293G>A | intron_variant | ENST00000377149.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR10C1 | ENST00000444197.3 | c.265C>T | p.Arg89Cys | missense_variant | 1/1 | NM_013941.4 | P1 | ||
OR11A1 | ENST00000377149.5 | c.-388-8293G>A | intron_variant | NM_001394828.1 | P1 | ||||
OR10C1 | ENST00000622521.1 | c.271C>T | p.Arg91Cys | missense_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000647 AC: 16AN: 247210Hom.: 0 AF XY: 0.0000892 AC XY: 12AN XY: 134536
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461716Hom.: 0 Cov.: 35 AF XY: 0.0000316 AC XY: 23AN XY: 727156
GnomAD4 genome AF: 0.000210 AC: 32AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000283 AC XY: 21AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at