NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val) AND Hereditary cancer-predisposing syndrome

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2023
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:: RCV002329764.2

Allele description

NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)

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.445A>G (p.Ile149Val)

HGVS:

NC_000001.11:g.10267395A>G
NG_008069.1:g.61690A>G
NM_001365951.3:c.445A>GMANE SELECT
NM_001365952.1:c.445A>G
NM_001365953.1:c.445A>G
NM_015074.3:c.445A>G
NM_183416.4:c.445A>G
NP_001352880.1:p.Ile149Val
NP_001352881.1:p.Ile149Val
NP_001352882.1:p.Ile149Val
NP_055889.2:p.Ile149Val
NP_904325.2:p.Ile149Val
LRG_252t1:c.445A>G
LRG_252t2:c.445A>G
LRG_252:g.61690A>G
LRG_252p1:p.Ile149Val
LRG_252p2:p.Ile149Val
NC_000001.10:g.10327453A>G

Protein change:

I149V

Links:

dbSNP: rs1051917954

NCBI 1000 Genomes Browser:

rs1051917954

Molecular consequence:

NM_001365951.3:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365952.1:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365953.1:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015074.3:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_183416.4:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002635986	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jun 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002635986

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jun 17, 2023)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002635986.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.I149V variant (also known as c.445A>G), located in coding exon 5 of the KIF1B gene, results from an A to G substitution at nucleotide position 445. The isoleucine at codon 149 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Mar 5, 2024

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