NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV004244773.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala)]

NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala)

Genes:

LOC129388446:MPRA-validated peak64 silencer [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.103A>G (p.Thr35Ala)

HGVS:

NC_000001.11:g.10232431A>G
NG_008069.1:g.26726A>G
NM_001365951.3:c.103A>GMANE SELECT
NM_001365952.1:c.103A>G
NM_001365953.1:c.103A>G
NM_015074.3:c.103A>G
NM_183416.4:c.103A>G
NP_001352880.1:p.Thr35Ala
NP_001352881.1:p.Thr35Ala
NP_001352882.1:p.Thr35Ala
NP_055889.2:p.Thr35Ala
NP_904325.2:p.Thr35Ala
LRG_252t1:c.103A>G
LRG_252t2:c.103A>G
LRG_252:g.26726A>G
LRG_252p1:p.Thr35Ala
LRG_252p2:p.Thr35Ala
NC_000001.10:g.10292489A>G

Protein change:

T35A

Molecular consequence:

NM_001365951.3:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365952.1:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365953.1:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015074.3:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_183416.4:c.103A>G - 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
SCV003860012	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003860012

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 28, 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, SCV003860012.2

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

Description

The p.T35A variant (also known as c.103A>G), located in coding exon 1 of the KIF1B gene, results from an A to G substitution at nucleotide position 103. The threonine at codon 35 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Nov 24, 2024

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