NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) AND Spastic paraplegia

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 1, 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:: RCV001081669.16

Allele description [Variation Report for NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)]

NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)

Gene:

KIF5A:kinesin family member 5A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

Preferred name:

NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)

HGVS:

NC_000012.12:g.57581917C>T
NG_008155.1:g.36854C>T
NM_001354705.2:c.2690C>T
NM_004984.4:c.2957C>TMANE SELECT
NP_001341634.1:p.Pro897Leu
NP_004975.2:p.Pro986Leu
NC_000012.11:g.57975700C>T
NM_004984.2:c.2957C>T

Protein change:

P897L

Links:

dbSNP: rs113247976

NCBI 1000 Genomes Browser:

rs113247976

Molecular consequence:

NM_001354705.2:c.2690C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004984.4:c.2957C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spastic paraplegia
Identifiers:: MedGen: C0037772; Human Phenotype Ontology: HP:0001258

Recent activity

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L-2-hydroxyglutarate oxidase LhgO [Klebsiella pneumoniae]
L-2-hydroxyglutarate oxidase LhgO [Klebsiella pneumoniae]
gi|1738179510|emb|VVK34138.1||gnl|W MF|VVK34138

Protein
Antipruritics
Antipruritics
Agents, usually topical, that relieve itching (pruritus).<br/>Year introduced: 1991(1975)

MeSH
protein DOG1-like 4 [Malus domestica]
protein DOG1-like 4 [Malus domestica]
gi|658060713|ref|XP_008366197.1|

Protein
probable beta-1,4-xylosyltransferase IRX9H [Cucumis sativus]
probable beta-1,4-xylosyltransferase IRX9H [Cucumis sativus]
gi|778687668|ref|XP_004136238.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000288782	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	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

SCV000288782

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000288782.9

#	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

Last Updated: Oct 26, 2024

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