chr7-17299299-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001621.5(AHR):c.35G>A(p.Ser12Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,612,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001621.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHR | NM_001621.5 | c.35G>A | p.Ser12Asn | missense_variant | Exon 1 of 11 | ENST00000242057.9 | NP_001612.1 | |
LOC101927609 | XR_007060234.1 | n.22C>T | non_coding_transcript_exon_variant | Exon 1 of 12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHR | ENST00000242057.9 | c.35G>A | p.Ser12Asn | missense_variant | Exon 1 of 11 | 1 | NM_001621.5 | ENSP00000242057.4 | ||
ENSG00000283321 | ENST00000637807.1 | c.5G>A | p.Ser2Asn | missense_variant | Exon 1 of 12 | 5 | ENSP00000490530.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152264Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243866Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133226
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1460142Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726464
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74392
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces serine with asparagine at codon 12 of the AHR protein (p.Ser12Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs201368737, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with AHR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at