rs11172254
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_004984.4(KIF5A):c.1717-129G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.533 in 801,012 control chromosomes in the GnomAD database, including 122,824 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004984.4 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: 0.460 AC: 69944AN: 151924Hom.: 18846 Cov.: 31
GnomAD4 exome AF: 0.550 AC: 356700AN: 648970Hom.: 103987 AF XY: 0.547 AC XY: 188468AN XY: 344808
GnomAD4 genome AF: 0.460 AC: 69922AN: 152042Hom.: 18837 Cov.: 31 AF XY: 0.452 AC XY: 33550AN XY: 74286
ClinVar
Submissions by phenotype
not provided Benign:2
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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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at