chr9-122473276-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000431442.2(ENSG00000234156):n.1186+4091A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.259 in 152,084 control chromosomes in the GnomAD database, including 5,814 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR1J2 | XM_024447516.2 | c.-190+4091A>G | intron_variant | ||||
OR1J2 | XM_024447517.2 | c.-230-2416A>G | intron_variant | ||||
OR1J2 | XR_007061271.1 | n.1241-2416A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000431442.2 | n.1186+4091A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000412262.2 | n.57-1802A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000650686.1 | n.850-2416A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.259 AC: 39391AN: 151966Hom.: 5789 Cov.: 32
GnomAD4 genome ? AF: 0.259 AC: 39464AN: 152084Hom.: 5814 Cov.: 32 AF XY: 0.261 AC XY: 19408AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at