KIF17 p.Asp932Asp

Variant names:

• chr1-20666325-C-C
• NM_001122819.3:c.

Your query was ambiguous. Multiple possible variants found:

• chr1-20666326--
• chr1-20666326-G-A

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_001122819.3(KIF17):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 33)
• Consequence: KIF17 NM_001122819.3 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.989
• Publications: 0 publications found

Genes affected

KIF17 (HGNC:19167): (kinesin family member 17) Predicted to enable microtubule binding activity and plus-end-directed microtubule motor activity. Predicted to be involved in anterograde dendritic transport of neurotransmitter receptor complex and cell projection organization. Predicted to act upstream of or within microtubule-based process; protein-containing complex localization; and vesicle-mediated transport. Predicted to be located in microtubule cytoskeleton. Predicted to be part of intraciliary transport particle B and kinesin complex. Predicted to be active in cilium; microtubule cytoskeleton; and neuron projection. [provided by Alliance of Genome Resources, Apr 2022]

KIF17 Gene-Disease associations (from GenCC):

• schizophrenia

  Inheritance: Unknown Classification: NO_KNOWN Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001122819.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KIF17	NM_001122819.3	MANE Select	c.		exon_region	Exon 14 of 15	NP_001116291.1	Q9P2E2-3
	KIF17	NM_020816.4		c.		exon_region	Exon 14 of 15	NP_065867.2	Q9P2E2-1
	KIF17	NM_001287212.2		c.		exon_region	Exon 14 of 15	NP_001274141.1	A0A0A0MRS8

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KIF17	ENST00000400463.8	TSL:1 MANE Select	c.		exon_region	Exon 14 of 15	ENSP00000383311.3	Q9P2E2-3
	KIF17	ENST00000247986.2	TSL:1	c.		exon_region	Exon 14 of 15	ENSP00000247986.2	Q9P2E2-1
	KIF17	ENST00000375044.5	TSL:1	c.		exon_region	Exon 14 of 15	ENSP00000364184.1	A0A0A0MRS8

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 36

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.99

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr1-20992818;