NM_001244008.2:c.1421+9C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001244008.2(KIF1A):c.1421+9C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00021 in 1,610,984 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001244008.2 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: 0.000131 AC: 20AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000433 AC: 106AN: 244920Hom.: 1 AF XY: 0.000623 AC XY: 83AN XY: 133172
GnomAD4 exome AF: 0.000218 AC: 318AN: 1458702Hom.: 10 Cov.: 31 AF XY: 0.000314 AC XY: 228AN XY: 725584
GnomAD4 genome AF: 0.000131 AC: 20AN: 152282Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74448
ClinVar
Submissions by phenotype
not specified Benign:1
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. -
not provided Benign:1
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Neuropathy, hereditary sensory, type 2C;C5235139:Hereditary spastic paraplegia 30;C5393830:Intellectual disability, autosomal dominant 9 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at