NM_001365951.3(KIF1B):c.3314A>C (p.Glu1105Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 25, 2024
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:: RCV004519671.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3314A>C (p.Glu1105Ala)]

NM_001365951.3(KIF1B):c.3314A>C (p.Glu1105Ala)

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.3314A>C (p.Glu1105Ala)

HGVS:

NC_000001.11:g.10337425A>C
NG_008069.1:g.131720A>C
NM_001365951.3:c.3314A>CMANE SELECT
NM_001365952.1:c.3314A>C
NM_015074.3:c.3176A>C
NP_001352880.1:p.Glu1105Ala
NP_001352881.1:p.Glu1105Ala
NP_055889.2:p.Glu1059Ala
LRG_252t1:c.3176A>C
LRG_252t2:c.3314A>C
LRG_252:g.131720A>C
LRG_252p1:p.Glu1059Ala
LRG_252p2:p.Glu1105Ala
NC_000001.10:g.10397483A>C

Protein change:

E1059A

Molecular consequence:

NM_001365951.3:c.3314A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365952.1:c.3314A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015074.3:c.3176A>C - 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
SCV005026663	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 25, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005026663

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 25, 2024)

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, SCV005026663.1

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

Description

The p.E1059A variant (also known as c.3176A>C), located in coding exon 28 of the KIF1B gene, results from an A to C substitution at nucleotide position 3176. The glutamic acid at codon 1059 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, 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: May 7, 2024

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