NM_014336.5:c.466-26T>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_014336.5(AIPL1):c.466-26T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0764 in 1,613,450 control chromosomes in the GnomAD database, including 4,977 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_014336.5 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: 0.0652 AC: 9917AN: 152112Hom.: 358 Cov.: 32
GnomAD3 exomes AF: 0.0628 AC: 15760AN: 250826Hom.: 586 AF XY: 0.0638 AC XY: 8645AN XY: 135586
GnomAD4 exome AF: 0.0775 AC: 113274AN: 1461220Hom.: 4619 Cov.: 36 AF XY: 0.0767 AC XY: 55784AN XY: 726908
GnomAD4 genome AF: 0.0652 AC: 9922AN: 152230Hom.: 358 Cov.: 32 AF XY: 0.0635 AC XY: 4729AN XY: 74430
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at