Genetic Variant KIF21B:p.Arg1632Leu (chr1-200974113-GC-AA) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is . The variant received 0 ACMG points: 0P and 0B.

The NM_001252100.2(KIF21B):c.4895_4896delGCinsTT(p.Arg1632Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1632H) has been classified as Uncertain significance.

Frequency

Genomes: not found (cov: 32)

Consequence

KIF21B
NM_001252100.2 missense

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 5.71

Publications

0 publications found

Variant links:

Genes affected

KIF21B (HGNC:29442): (kinesin family member 21B) This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

KIF21B Gene-Disease associations (from GenCC):

neurodevelopmental disorder
Inheritance: AD Classification: STRONG Submitted by: PanelApp Australia

KIF21B links:

Genome browser will be placed here

new If you want to explore the variant's impact on the transcript NM_001252100.2, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001252100.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
KIF21B	NM_001252102.2	MANE Select	c.4815-536_4815-535delGCinsTT		intron	N/A	NP_001239031.1	O75037-4
KIF21B	NM_001252100.2		c.4895_4896delGCinsTT	p.Arg1632Leu	missense	N/A	NP_001239029.1	O75037-1
KIF21B	NM_017596.4		c.4856_4857delGCinsTT	p.Arg1619Leu	missense	N/A	NP_060066.2

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
KIF21B	ENST00000422435.2	TSL:1	c.4895_4896delGCinsTT	p.Arg1632Leu	missense	N/A	ENSP00000411831.2	O75037-1
KIF21B	ENST00000332129.6	TSL:1	c.4856_4857delGCinsTT	p.Arg1619Leu	missense	N/A	ENSP00000328494.2	O75037-2
KIF21B	ENST00000461742.7	TSL:1 MANE Select	c.4815-536_4815-535delGCinsTT		intron	N/A	ENSP00000433808.1	O75037-4

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

5.7

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.

Publications

You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over