rs17053651
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001134831.2(AHI1):c.1780-47C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0271 in 1,512,530 control chromosomes in the GnomAD database, including 621 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001134831.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0203 AC: 3094AN: 152094Hom.: 38 Cov.: 32
GnomAD3 exomes AF: 0.0281 AC: 5244AN: 186644Hom.: 98 AF XY: 0.0287 AC XY: 2909AN XY: 101354
GnomAD4 exome AF: 0.0279 AC: 37932AN: 1360318Hom.: 582 Cov.: 23 AF XY: 0.0279 AC XY: 18718AN XY: 671712
GnomAD4 genome AF: 0.0203 AC: 3096AN: 152212Hom.: 39 Cov.: 32 AF XY: 0.0200 AC XY: 1487AN XY: 74410
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at