chr6-29174226-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030905.3(OR2J2):āc.591G>Cā(p.Glu197Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000178 in 1,461,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_030905.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2J2 | NM_030905.3 | c.591G>C | p.Glu197Asp | missense_variant | 2/2 | ENST00000641417.1 | NP_112167.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2J2 | ENST00000641417.1 | c.591G>C | p.Glu197Asp | missense_variant | 2/2 | NM_030905.3 | ENSP00000493401.1 | |||
OR2J2 | ENST00000377167.3 | c.591G>C | p.Glu197Asp | missense_variant | 1/1 | 6 | ENSP00000366372.2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249482Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135348
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461766Hom.: 0 Cov.: 55 AF XY: 0.0000206 AC XY: 15AN XY: 727186
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 11, 2024 | The c.591G>C (p.E197D) alteration is located in exon 1 (coding exon 1) of the OR2J2 gene. This alteration results from a G to C substitution at nucleotide position 591, causing the glutamic acid (E) at amino acid position 197 to be replaced by an aspartic acid (D). 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