6-39343778-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_145027.6(KIF6):c.2359G>A(p.Gly787Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00387 in 1,612,614 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_145027.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00294 AC: 447AN: 152206Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00212 AC: 529AN: 249594Hom.: 1 AF XY: 0.00210 AC XY: 283AN XY: 134880
GnomAD4 exome AF: 0.00397 AC: 5792AN: 1460290Hom.: 20 Cov.: 30 AF XY: 0.00380 AC XY: 2761AN XY: 726402
GnomAD4 genome AF: 0.00293 AC: 447AN: 152324Hom.: 1 Cov.: 32 AF XY: 0.00271 AC XY: 202AN XY: 74472
ClinVar
Submissions by phenotype
KIF6-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at