rs142704960
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001134831.2(AHI1):āc.2831A>Gā(p.Gln944Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000657 in 1,613,238 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001134831.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AHI1 | NM_001134831.2 | c.2831A>G | p.Gln944Arg | missense_variant | 21/29 | ENST00000265602.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHI1 | ENST00000265602.11 | c.2831A>G | p.Gln944Arg | missense_variant | 21/29 | 1 | NM_001134831.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000289 AC: 44AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000926 AC: 23AN: 248468Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134780
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1460962Hom.: 1 Cov.: 30 AF XY: 0.0000317 AC XY: 23AN XY: 726694
GnomAD4 genome ? AF: 0.000289 AC: 44AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74472
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2022 | The c.2831A>G (p.Q944R) alteration is located in exon 20 (coding exon 18) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 2831, causing the glutamine (Q) at amino acid position 944 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Jun 14, 2016 | - - |
Familial aplasia of the vermis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at