6-29440850-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013941.4(OR10C1):c.835G>A(p.Val279Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,613,714 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 (★).
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.835G>A | p.Val279Met | missense_variant | 1/1 | ENST00000444197.3 | |
OR11A1 | NM_001394828.1 | c.-388-8863C>T | intron_variant | ENST00000377149.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR10C1 | ENST00000444197.3 | c.835G>A | p.Val279Met | missense_variant | 1/1 | NM_013941.4 | P1 | ||
OR11A1 | ENST00000377149.5 | c.-388-8863C>T | intron_variant | NM_001394828.1 | P1 | ||||
OR10C1 | ENST00000622521.1 | c.841G>A | p.Val281Met | missense_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247346Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134524
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461544Hom.: 0 Cov.: 33 AF XY: 0.00000688 AC XY: 5AN XY: 727114
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.835G>A (p.V279M) alteration is located in exon 1 (coding exon 1) of the OR10C1 gene. This alteration results from a G to A substitution at nucleotide position 835, causing the valine (V) at amino acid position 279 to be replaced by a methionine (M). 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