chr11-56105676-T-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001386064.1(OR8H2):c.634T>A(p.Phe212Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,614,008 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 Likely benign (★).
Frequency
Consequence
NM_001386064.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR8H2 | NM_001386064.1 | c.634T>A | p.Phe212Ile | missense_variant | 2/2 | ENST00000313503.2 | |
OR8H2 | NM_001005200.2 | c.634T>A | p.Phe212Ile | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR8H2 | ENST00000313503.2 | c.634T>A | p.Phe212Ile | missense_variant | 2/2 | NM_001386064.1 | P4 | ||
OR8H2 | ENST00000641311.1 | c.634T>A | p.Phe212Ile | missense_variant | 2/2 | P4 | |||
OR8H2 | ENST00000618136.1 | c.631T>A | p.Phe211Ile | missense_variant | 1/1 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251388Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135860
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461776Hom.: 0 Cov.: 43 AF XY: 0.0000261 AC XY: 19AN XY: 727198
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at