15-69416041-C-G

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_001367805.3(KIF23):​c.59C>G​(p.Thr20Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 33)

Consequence

KIF23
NM_001367805.3 missense

Scores

19

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.57
Variant links:
Genes affected
KIF23 (HGNC:6392): (kinesin family member 23) The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.06001395).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
KIF23NM_001367805.3 linkc.59C>G p.Thr20Arg missense_variant Exon 2 of 24 ENST00000679126.1 NP_001354734.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
KIF23ENST00000679126.1 linkc.59C>G p.Thr20Arg missense_variant Exon 2 of 24 NM_001367805.3 ENSP00000504770.1 A0A7I2V5Y5

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
Cov.:
29
GnomAD4 genome
Cov.:
33
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.11
BayesDel_addAF
Benign
-0.0042
T
BayesDel_noAF
Benign
-0.24
CADD
Benign
18
DANN
Benign
0.97
DEOGEN2
Benign
0.019
T;T;.;T;.
Eigen
Benign
-0.75
Eigen_PC
Benign
-0.65
FATHMM_MKL
Benign
0.11
N
LIST_S2
Benign
0.73
.;T;T;T;T
M_CAP
Benign
0.012
T
MetaRNN
Benign
0.060
T;T;T;T;T
MetaSVM
Benign
-0.98
T
MutationAssessor
Benign
1.7
L;.;L;L;.
PrimateAI
Benign
0.43
T
PROVEAN
Benign
-0.73
N;N;N;.;N
REVEL
Benign
0.24
Sift
Benign
0.37
T;T;T;.;T
Sift4G
Benign
0.30
T;T;T;.;T
Polyphen
0.0010
B;.;B;B;.
Vest4
0.25
MutPred
0.25
Gain of MoRF binding (P = 0.0134);Gain of MoRF binding (P = 0.0134);Gain of MoRF binding (P = 0.0134);Gain of MoRF binding (P = 0.0134);Gain of MoRF binding (P = 0.0134);
MVP
0.75
MPC
0.29
ClinPred
0.15
T
GERP RS
3.8
Varity_R
0.18
gMVP
0.20

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.030
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs758710646; hg19: chr15-69708380; API