NM_001365951.3(KIF1B):c.3647G>A (p.Cys1216Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 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:: RCV004360802.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3647G>A (p.Cys1216Tyr)]

NM_001365951.3(KIF1B):c.3647G>A (p.Cys1216Tyr)

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.3647G>A (p.Cys1216Tyr)

HGVS:

NC_000001.11:g.10343246G>A
NG_008069.1:g.137541G>A
NM_001365951.3:c.3647G>AMANE SELECT
NM_001365952.1:c.3647G>A
NM_015074.3:c.3509G>A
NP_001352880.1:p.Cys1216Tyr
NP_001352881.1:p.Cys1216Tyr
NP_055889.2:p.Cys1170Tyr
LRG_252t1:c.3509G>A
LRG_252t2:c.3647G>A
LRG_252:g.137541G>A
LRG_252p1:p.Cys1170Tyr
LRG_252p2:p.Cys1216Tyr
NC_000001.10:g.10403304G>A

Protein change:

C1170Y

Molecular consequence:

NM_001365951.3:c.3647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365952.1:c.3647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015074.3:c.3509G>A - 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
SCV004097798	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004097798

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 13, 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, SCV004097798.2

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

Description

The p.C1170Y variant (also known as c.3509G>A), located in coding exon 31 of the KIF1B gene, results from a G to A substitution at nucleotide position 3509. The cysteine at codon 1170 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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: Jun 23, 2024

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