7-17309974-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001621.5(AHR):c.104C>T(p.Pro35Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001621.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHR | NM_001621.5 | c.104C>T | p.Pro35Leu | missense_variant | Exon 2 of 11 | ENST00000242057.9 | NP_001612.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHR | ENST00000242057.9 | c.104C>T | p.Pro35Leu | missense_variant | Exon 2 of 11 | 1 | NM_001621.5 | ENSP00000242057.4 | ||
ENSG00000283321 | ENST00000637807.1 | c.74C>T | p.Pro25Leu | missense_variant | Exon 2 of 12 | 5 | ENSP00000490530.1 | |||
AHR | ENST00000463496.1 | n.104C>T | non_coding_transcript_exon_variant | Exon 2 of 12 | 1 | ENSP00000436466.1 | ||||
AHR | ENST00000642825.1 | c.59C>T | p.Pro20Leu | missense_variant | Exon 6 of 15 | ENSP00000495987.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.104C>T (p.P35L) alteration is located in exon 2 (coding exon 2) of the AHR gene. This alteration results from a C to T substitution at nucleotide position 104, causing the proline (P) at amino acid position 35 to be replaced by a leucine (L). 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