14-104701773-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_022489.4(INF2):c.391+17G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.012 in 1,478,464 control chromosomes in the GnomAD database, including 705 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_022489.4 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: 0.0131 AC: 1992AN: 152234Hom.: 69 Cov.: 34
GnomAD3 exomes AF: 0.0360 AC: 3221AN: 89562Hom.: 154 AF XY: 0.0369 AC XY: 1736AN XY: 47108
GnomAD4 exome AF: 0.0119 AC: 15798AN: 1326114Hom.: 636 Cov.: 35 AF XY: 0.0132 AC XY: 8536AN XY: 646704
GnomAD4 genome AF: 0.0131 AC: 2000AN: 152350Hom.: 69 Cov.: 34 AF XY: 0.0158 AC XY: 1174AN XY: 74490
ClinVar
Submissions by phenotype
not specified Benign:3
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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Focal segmental glomerulosclerosis 5;C4302667:Charcot-Marie-Tooth disease dominant intermediate E Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at