NM_022489.4:c.1949+16A>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_022489.4(INF2):c.1949+16A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.108 in 1,611,970 control chromosomes in the GnomAD database, including 16,737 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: 0.203 AC: 30819AN: 152048Hom.: 5735 Cov.: 33
GnomAD3 exomes AF: 0.107 AC: 26632AN: 248692Hom.: 2944 AF XY: 0.103 AC XY: 13920AN XY: 135158
GnomAD4 exome AF: 0.0984 AC: 143589AN: 1459804Hom.: 10982 Cov.: 33 AF XY: 0.0979 AC XY: 71086AN XY: 726244
GnomAD4 genome AF: 0.203 AC: 30885AN: 152166Hom.: 5755 Cov.: 33 AF XY: 0.196 AC XY: 14572AN XY: 74390
ClinVar
Submissions by phenotype
not specified Benign:4
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