Variant 1-10210698-C-T details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2

The NM_001365951.3(KIF1B):c.-260C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0018 in 151,528 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.0018 ( 2 hom., cov: 32)

Exomes 𝑓: 0.015 ( 0 hom. )

Consequence

KIF1B
NM_001365951.3 5_prime_UTR

Scores

Clinical Significance

Likely benign criteria provided, single submitter B:3

Conservation

PhyloP100: -1.25

Variant links:

Genes affected

KIF1B (HGNC:16636): (kinesin family member 1B) Predicted to enable microtubule binding activity and plus-end-directed microtubule motor activity. Predicted to be involved in chemical synaptic transmission; dense core granule cytoskeletal transport; and vesicle-mediated transport. Predicted to act upstream of or within mitochondrion transport along microtubule. Predicted to be located in cytoplasmic vesicle membrane and neuron projection. Predicted to be part of kinesin complex. Predicted to be active in several cellular components, including axon; dendrite; and microtubule. Implicated in Charcot-Marie-Tooth disease type 2A1; carcinoma (multiple); multiple sclerosis; neuroblastoma; and pheochromocytoma. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022]

KIF1B links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.74).

BP6

Variant 1-10210698-C-T is Benign according to our data. Variant chr1-10210698-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 368793.Status of the report is criteria_provided_single_submitter, 1 stars.

BS2

High AC in GnomAd4 at 269 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	Exon rank	MANE	Protein	UniProt
KIF1B	NM_001365951.3 link	c.-260C>T	5_prime_UTR_variant	Exon 1 of 49	ENST00000676179.1	NP_001352880.1
KIF1B	NM_183416.4 link	c.-260C>T	5_prime_UTR_variant	Exon 1 of 21		NP_904325.2	O60333-3
KIF1B	NM_015074.3 link	c.-260C>T	upstream_gene_variant			NP_055889.2	O60333-2

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL	MANE	Protein	UniProt
KIF1B	ENST00000676179 link	c.-260C>T	5_prime_UTR_variant	Exon 1 of 49		NM_001365951.3	ENSP00000502065.1	O60333-1
KIF1B	ENST00000377093 link	c.-260C>T	5_prime_UTR_variant	Exon 1 of 21	1		ENSP00000366297.4	O60333-3
KIF1B	ENST00000696500.1 link	n.-260C>T	non_coding_transcript_exon_variant	Exon 1 of 22			ENSP00000512666.1	A0A8Q3WL98
KIF1B	ENST00000696500.1 link	n.-260C>T	5_prime_UTR_variant	Exon 1 of 22			ENSP00000512666.1	A0A8Q3WL98

Frequencies

GnomAD3 genomes

AF:

0.00178

AC:

269

AN:

151218

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.000339

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00159

Gnomad ASJ

AF:

0.00808

Gnomad EAS

AF:

0.000193

Gnomad SAS

AF:

0.00931

Gnomad FIN

AF:

0.000781

Gnomad MID

AF:

0.00955

Gnomad NFE

AF:

0.00208

Gnomad OTH

AF:

0.00241

GnomAD4 exome

AF:

0.0147

AC:

AN:

204

Hom.:

AF XY:

0.0197

AC XY:

AN XY:

152

show subpopulations

Gnomad4 AFR exome

AF:

0.00

Gnomad4 AMR exome

AF:

0.00

Gnomad4 ASJ exome

AF:

0.00

Gnomad4 EAS exome

AF:

0.00

Gnomad4 SAS exome

AF:

0.00

Gnomad4 FIN exome

AF:

0.00

Gnomad4 NFE exome

AF:

0.0172

Gnomad4 OTH exome

AF:

0.00

GnomAD4 genome

AF:

0.00178

AC:

269

AN:

151324

Hom.:

Cov.:

AF XY:

0.00185

AC XY:

137

AN XY:

73958

show subpopulations

Gnomad4 AFR

AF:

0.000338

Gnomad4 AMR

AF:

0.00159

Gnomad4 ASJ

AF:

0.00808

Gnomad4 EAS

AF:

0.000193

Gnomad4 SAS

AF:

0.00932

Gnomad4 FIN

AF:

0.000781

Gnomad4 NFE

AF:

0.00208

Gnomad4 OTH

AF:

0.00239

Alfa

AF:

0.00217

Hom.:

Bravo

AF:

0.00142

Asia WGS

AF:

0.00239

AC:

AN:

3362

ClinVar

Significance: Likely benign

Submissions summary: Benign:3

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

Pheochromocytoma

Benign:1

Jun 14, 2016

Illumina Laboratory Services, Illumina

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Neuroblastoma

Benign:1

Jun 14, 2016

Illumina Laboratory Services, Illumina

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Charcot-Marie-Tooth disease type 2

Benign:1

Jun 14, 2016

Illumina Laboratory Services, Illumina

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.74

CADD

Benign

7.2

DANN

Benign

0.92

Splicing

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over