6-29440751-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013941.4(OR10C1):āc.736A>Cā(p.Met246Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,840 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. M246V) 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.736A>C | p.Met246Leu | missense_variant | 1/1 | ENST00000444197.3 | |
OR11A1 | NM_001394828.1 | c.-388-8764T>G | intron_variant | ENST00000377149.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR10C1 | ENST00000444197.3 | c.736A>C | p.Met246Leu | missense_variant | 1/1 | NM_013941.4 | P1 | ||
OR11A1 | ENST00000377149.5 | c.-388-8764T>G | intron_variant | NM_001394828.1 | P1 | ||||
OR10C1 | ENST00000622521.1 | c.742A>C | p.Met248Leu | missense_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151998Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461722Hom.: 0 Cov.: 43 AF XY: 0.00000138 AC XY: 1AN XY: 727170
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at