chr7-17299284-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001621.5(AHR):c.20A>G(p.Asn7Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,460,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N7D) has been classified 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AHR | NM_001621.5 | c.20A>G | p.Asn7Ser | missense_variant | 1/11 | ENST00000242057.9 | |
LOC101927609 | XR_007060234.1 | n.37T>C | non_coding_transcript_exon_variant | 1/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHR | ENST00000242057.9 | c.20A>G | p.Asn7Ser | missense_variant | 1/11 | 1 | NM_001621.5 | P2 | |
ENST00000643090.1 | n.5T>C | non_coding_transcript_exon_variant | 1/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000819 AC: 2AN: 244160Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133352
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460040Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726394
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Jul 26, 2022 | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 7 of the AHR protein (p.Asn7Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with AHR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1499316). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at