NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) AND Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (2 submissions)
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:: RCV000144876.11

Allele description [Variation Report for NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)]

NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)

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.899A>G (p.Lys300Arg)

HGVS:

NC_000001.11:g.10275444A>G
NG_008069.1:g.69739A>G
NM_001365951.3:c.899A>GMANE SELECT
NM_001365952.1:c.899A>G
NM_001365953.1:c.881A>G
NM_015074.3:c.881A>G
NM_183416.4:c.881A>G
NP_001352880.1:p.Lys300Arg
NP_001352881.1:p.Lys300Arg
NP_001352882.1:p.Lys294Arg
NP_055889.2:p.Lys294Arg
NP_904325.2:p.Lys294Arg
LRG_252t1:c.881A>G
LRG_252t2:c.899A>G
LRG_252:g.69739A>G
LRG_252p1:p.Lys294Arg
LRG_252p2:p.Lys300Arg
NC_000001.10:g.10335502A>G

Protein change:

K294R

Links:

dbSNP: rs373698346

NCBI 1000 Genomes Browser:

rs373698346

Molecular consequence:

NM_001365951.3:c.899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365952.1:c.899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365953.1:c.881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015074.3:c.881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_183416.4:c.881A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172148	Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study	no assertion criteria provided	Likely pathogenic (Nov 1, 2013)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001336694	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000172148

Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study

no assertion criteria provided

Likely pathogenic
(Nov 1, 2013)

unknown

research

PubMed (1)
[See all records that cite this PMID]

SCV001336694

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	tested-inconclusive	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB.

Biomed Res Int. 2014;2014:210401. doi: 10.1155/2014/210401. Epub 2014 Jun 16. Erratum in: Biomed Res Int. 2015;2015:314651. doi: 10.1155/2015/314651.

PubMed [citation]

PMID:: 25025039
PMCID:: PMC4082881

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

PMC

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease.

Høyer H, Braathen GJ, Eek AK, Nordang GB, Skjelbred CF, Russell MB.

BioMed Research International. 2015 Jan 8; 2015: 960404

PMC [article]

PMCID:: PMC4306395
PMID:: 25648254
DOI:: 10.1155/2015/960404

Details of each submission

From Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study, SCV000172148.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

From Molecular Genetics Laboratory, London Health Sciences Centre, SCV001336694.1

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

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

Last Updated: Oct 8, 2024

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