NM_001005205.3:c.662T>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001005205.3(OR8J1):c.662T>C(p.Ile221Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000579 in 1,486,012 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005205.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR8J1 | ENST00000533152.3 | c.662T>C | p.Ile221Thr | missense_variant | Exon 2 of 2 | 6 | NM_001005205.3 | ENSP00000477259.3 | ||
OR8J1 | ENST00000303039.3 | c.662T>C | p.Ile221Thr | missense_variant | Exon 1 of 1 | 6 | ENSP00000304060.3 | |||
OR8J1 | ENST00000641406.1 | n.651T>C | non_coding_transcript_exon_variant | Exon 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000765 AC: 12AN: 156864Hom.: 0 AF XY: 0.0000841 AC XY: 7AN XY: 83264
GnomAD4 exome AF: 0.0000510 AC: 68AN: 1333728Hom.: 0 Cov.: 33 AF XY: 0.0000490 AC XY: 32AN XY: 652682
GnomAD4 genome AF: 0.000118 AC: 18AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.662T>C (p.I221T) alteration is located in exon 1 (coding exon 1) of the OR8J1 gene. This alteration results from a T to C substitution at nucleotide position 662, causing the isoleucine (I) at amino acid position 221 to be replaced by a threonine (T). 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