1-158765857-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005185.2(OR6N1):c.826G>A(p.Val276Met) 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 1,461,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005185.2 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 |
---|---|---|---|---|---|---|---|
OR6N1 | NM_001005185.2 | c.826G>A | p.Val276Met | missense_variant | 2/2 | ENST00000641846.1 | |
OR6N1 | XM_017000325.2 | c.826G>A | p.Val276Met | missense_variant | 3/3 | ||
OR6N1 | XM_017000326.2 | c.826G>A | p.Val276Met | missense_variant | 4/4 | ||
OR6N1 | XM_017000327.2 | c.826G>A | p.Val276Met | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR6N1 | ENST00000641846.1 | c.826G>A | p.Val276Met | missense_variant | 2/2 | NM_001005185.2 | P1 | ||
OR6N1 | ENST00000641189.1 | n.175+6164G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251388Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135866
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461714Hom.: 0 Cov.: 52 AF XY: 0.00000688 AC XY: 5AN XY: 727186
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 11, 2023 | The c.826G>A (p.V276M) alteration is located in exon 1 (coding exon 1) of the OR6N1 gene. This alteration results from a G to A substitution at nucleotide position 826, causing the valine (V) at amino acid position 276 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