chr11-55935788-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006637.1(OR5I1):c.613G>A(p.Gly205Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000267 in 1,611,054 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006637.1 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 |
---|---|---|---|---|---|---|---|
OR5I1 | NM_006637.1 | c.613G>A | p.Gly205Ser | missense_variant | 1/1 | ENST00000301532.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR5I1 | ENST00000301532.3 | c.613G>A | p.Gly205Ser | missense_variant | 1/1 | NM_006637.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151416Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000283 AC: 7AN: 247602Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134008
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1459520Hom.: 0 Cov.: 34 AF XY: 0.0000207 AC XY: 15AN XY: 726080
GnomAD4 genome AF: 0.000112 AC: 17AN: 151534Hom.: 0 Cov.: 32 AF XY: 0.0000945 AC XY: 7AN XY: 74060
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2022 | The c.613G>A (p.G205S) alteration is located in exon 1 (coding exon 1) of the OR5I1 gene. This alteration results from a G to A substitution at nucleotide position 613, causing the glycine (G) at amino acid position 205 to be replaced by a serine (S). 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