7-17299343-GC-TT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001621.5(AHR):c.65+14_65+15delGCinsTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001621.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHR | NM_001621.5 | c.65+14_65+15delGCinsTT | intron_variant | Intron 1 of 10 | ENST00000242057.9 | NP_001612.1 | ||
LOC101927609 | XR_007060234.1 | n.-24_-23delGCinsAA | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHR | ENST00000242057.9 | c.65+14_65+15delGCinsTT | intron_variant | Intron 1 of 10 | 1 | NM_001621.5 | ENSP00000242057.4 | |||
ENSG00000283321 | ENST00000637807.1 | c.35+14_35+15delGCinsTT | intron_variant | Intron 1 of 11 | 5 | ENSP00000490530.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with AHR-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change falls in intron 1 of the AHR gene. It does not directly change the encoded amino acid sequence of the AHR protein. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.