11-5544915-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005289.5(OR52H1):c.591C>A(p.Asn197Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,710 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005289.5 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 |
---|---|---|---|---|---|---|---|
OR52H1 | NM_001005289.5 | c.591C>A | p.Asn197Lys | missense_variant | 2/2 | ENST00000322653.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR52H1 | ENST00000322653.7 | c.591C>A | p.Asn197Lys | missense_variant | 2/2 | NM_001005289.5 | P1 | ||
OR52H1 | ENST00000641796.2 | c.591C>A | p.Asn197Lys | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249450Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134820
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461710Hom.: 0 Cov.: 59 AF XY: 0.00000413 AC XY: 3AN XY: 727136
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 17, 2022 | The c.609C>A (p.N203K) alteration is located in exon 1 (coding exon 1) of the OR52H1 gene. This alteration results from a C to A substitution at nucleotide position 609, causing the asparagine (N) at amino acid position 203 to be replaced by a lysine (K). 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