NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 5, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003133168.4

Allele description [Variation Report for NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)]

NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)

Gene:

KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)

HGVS:

NC_000002.12:g.240722536C>T
NG_029724.1:g.102672G>A
NM_001244008.2:c.4585G>AMANE SELECT
NM_001320705.2:c.4309G>A
NM_001330289.2:c.4336G>A
NM_001330290.2:c.4384G>A
NM_001379631.1:c.4660G>A
NM_001379632.1:c.4561G>A
NM_001379633.1:c.4558G>A
NM_001379634.1:c.4411G>A
NM_001379635.1:c.4408G>A
NM_001379636.1:c.4396G>A
NM_001379637.1:c.4357G>A
NM_001379638.1:c.4333G>A
NM_001379639.1:c.4306G>A
NM_001379640.1:c.4279G>A
NM_001379641.1:c.4282G>A
NM_001379642.1:c.4585G>A
NM_001379645.1:c.4558G>A
NM_001379646.1:c.4408G>A
NM_001379648.1:c.4384G>A
NM_001379649.1:c.4309G>A
NM_001379650.1:c.4282G>A
NM_001379651.1:c.4282G>A
NM_001379653.1:c.4282G>A
NM_004321.7:c.4282G>A
NM_004321.8:c.4282G>A
NP_001230937.1:p.Ala1529Thr
NP_001307634.1:p.Ala1437Thr
NP_001317218.1:p.Ala1446Thr
NP_001317219.1:p.Ala1462Thr
NP_001366560.1:p.Ala1554Thr
NP_001366561.1:p.Ala1521Thr
NP_001366562.1:p.Ala1520Thr
NP_001366563.1:p.Ala1471Thr
NP_001366564.1:p.Ala1470Thr
NP_001366565.1:p.Ala1466Thr
NP_001366566.1:p.Ala1453Thr
NP_001366567.1:p.Ala1445Thr
NP_001366568.1:p.Ala1436Thr
NP_001366569.1:p.Ala1427Thr
NP_001366570.1:p.Ala1428Thr
NP_001366571.1:p.Ala1529Thr
NP_001366574.1:p.Ala1520Thr
NP_001366575.1:p.Ala1470Thr
NP_001366577.1:p.Ala1462Thr
NP_001366578.1:p.Ala1437Thr
NP_001366579.1:p.Ala1428Thr
NP_001366580.1:p.Ala1428Thr
NP_001366582.1:p.Ala1428Thr
NP_004312.2:p.Ala1428Thr
LRG_367t2:c.4282G>A
LRG_367:g.102672G>A
NC_000002.11:g.241661953C>T
NM_001244008.2:c.4585G>A
NM_004321.5:c.4282G>A
NM_004321.6:c.4282G>A

Protein change:

A1427T

Links:

dbSNP: rs572923181

NCBI 1000 Genomes Browser:

rs572923181

Molecular consequence:

NM_001244008.2:c.4585G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320705.2:c.4309G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330289.2:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330290.2:c.4384G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379631.1:c.4660G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379632.1:c.4561G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379633.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379634.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379635.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379636.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379637.1:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379638.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379639.1:c.4306G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379640.1:c.4279G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379641.1:c.4282G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379642.1:c.4585G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379645.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379646.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379648.1:c.4384G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379649.1:c.4309G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379650.1:c.4282G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379651.1:c.4282G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379653.1:c.4282G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004321.8:c.4282G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003814544	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 8, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004024037	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003814544

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 8, 2021)

germline

clinical testing

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

SCV004024037

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 5, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Details of each submission

From Revvity Omics, Revvity, SCV003814544.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV004024037.1

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Nov 30, 2024

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