NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 4, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004018562.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)]

NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)

Gene:

KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)

HGVS:

NC_000001.11:g.10324838C>T
NG_008069.1:g.119133C>T
NM_001365951.3:c.2618C>TMANE SELECT
NM_001365952.1:c.2618C>T
NM_015074.3:c.2480C>T
NP_001352880.1:p.Thr873Ile
NP_001352881.1:p.Thr873Ile
NP_055889.2:p.Thr827Ile
LRG_252t1:c.2480C>T
LRG_252t2:c.2618C>T
LRG_252:g.119133C>T
LRG_252p1:p.Thr827Ile
LRG_252p2:p.Thr873Ile
NC_000001.10:g.10384896C>T

Protein change:

T827I; THR827ILE

Links:

OMIM: 605995.0003; dbSNP: rs121908162

NCBI 1000 Genomes Browser:

rs121908162

Molecular consequence:

NM_001365951.3:c.2618C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001365952.1:c.2618C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_015074.3:c.2480C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002735406	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 4, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18334619, 24469107, 24694336 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002735406

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 4, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.

Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr.

Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11.

PubMed [citation]

PMID:: 18334619
PMCID:: PMC2279200

RNA helicase A is a downstream mediator of KIF1Bβ tumor-suppressor function in neuroblastoma.

Chen ZX, Wallis K, Fell SM, Sobrado VR, Hemmer MC, Ramsköld D, Hellman U, Sandberg R, Kenchappa RS, Martinson T, Johnsen JI, Kogner P, Schlisio S.

Cancer Discov. 2014 Apr;4(4):434-51. doi: 10.1158/2159-8290.CD-13-0362. Epub 2014 Jan 27.

PubMed [citation]

PMID:: 24469107

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002735406.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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