chr7-17310002-T-C
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_001621.5(AHR):āc.132T>Cā(p.Asn44Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0804 in 1,613,268 control chromosomes in the GnomAD database, including 5,833 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_001621.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHR | NM_001621.5 | c.132T>C | p.Asn44Asn | synonymous_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.132T>C | p.Asn44Asn | synonymous_variant | Exon 2 of 11 | 1 | NM_001621.5 | ENSP00000242057.4 | ||
ENSG00000283321 | ENST00000637807.1 | c.102T>C | p.Asn34Asn | synonymous_variant | Exon 2 of 12 | 5 | ENSP00000490530.1 | |||
AHR | ENST00000463496.1 | n.132T>C | non_coding_transcript_exon_variant | Exon 2 of 12 | 1 | ENSP00000436466.1 | ||||
AHR | ENST00000642825.1 | c.87T>C | p.Asn29Asn | synonymous_variant | Exon 6 of 15 | ENSP00000495987.1 |
Frequencies
GnomAD3 genomes AF: 0.0681 AC: 10357AN: 152126Hom.: 447 Cov.: 32
GnomAD3 exomes AF: 0.0771 AC: 19364AN: 251286Hom.: 891 AF XY: 0.0810 AC XY: 10996AN XY: 135808
GnomAD4 exome AF: 0.0817 AC: 119372AN: 1461024Hom.: 5386 Cov.: 31 AF XY: 0.0832 AC XY: 60453AN XY: 726796
GnomAD4 genome AF: 0.0680 AC: 10347AN: 152244Hom.: 447 Cov.: 32 AF XY: 0.0706 AC XY: 5253AN XY: 74438
ClinVar
Submissions by phenotype
not provided Benign:1
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AHR-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at