rs184236039
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001134831.2(AHI1):c.3546G>A(p.Met1182Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000382 in 1,613,404 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001134831.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHI1 | NM_001134831.2 | c.3546G>A | p.Met1182Ile | missense_variant | 28/29 | ENST00000265602.11 | NP_001128303.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHI1 | ENST00000265602.11 | c.3546G>A | p.Met1182Ile | missense_variant | 28/29 | 1 | NM_001134831.2 | ENSP00000265602.6 |
Frequencies
GnomAD3 genomes AF: 0.00209 AC: 318AN: 152190Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000490 AC: 121AN: 246790Hom.: 0 AF XY: 0.000343 AC XY: 46AN XY: 134108
GnomAD4 exome AF: 0.000204 AC: 298AN: 1461096Hom.: 2 Cov.: 30 AF XY: 0.000171 AC XY: 124AN XY: 726886
GnomAD4 genome AF: 0.00209 AC: 319AN: 152308Hom.: 2 Cov.: 32 AF XY: 0.00203 AC XY: 151AN XY: 74484
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Apr 08, 2016 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 04, 2020 | - - |
AHI1-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 16, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Familial aplasia of the vermis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at