chr6-29174345-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030905.3(OR2J2):āc.710A>Gā(p.Lys237Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,726 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. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.710A>G | p.Lys237Arg | 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.710A>G | p.Lys237Arg | missense_variant | 2/2 | NM_030905.3 | ENSP00000493401 | P1 | ||
OR2J2 | ENST00000377167.3 | c.710A>G | p.Lys237Arg | missense_variant | 1/1 | ENSP00000366372 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151996Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461730Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727148
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151996Hom.: 0 Cov.: 31 AF XY: 0.0000674 AC XY: 5AN XY: 74216
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.710A>G (p.K237R) alteration is located in exon 1 (coding exon 1) of the OR2J2 gene. This alteration results from a A to G substitution at nucleotide position 710, causing the lysine (K) at amino acid position 237 to be replaced by an arginine (R). 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