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NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) AND Hereditary spastic paraplegia 10

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000149510.5

Allele description [Variation Report for NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)]

NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)

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.694G>A (p.Asp232Asn)
HGVS:
  • NC_000012.12:g.57567598G>A
  • NG_008155.1:g.22535G>A
  • NM_001354705.2:c.427G>A
  • NM_004984.4:c.694G>AMANE SELECT
  • NP_001341634.1:p.Asp143Asn
  • NP_004975.2:p.Asp232Asn
  • NC_000012.11:g.57961381G>A
  • NM_004984.2:c.694G>A
Protein change:
D143N; ASP232ASN
Links:
OMIM: 602821.0010; dbSNP: rs690016545
NCBI 1000 Genomes Browser:
rs690016545
Molecular consequence:
  • NM_001354705.2:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004984.4:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary spastic paraplegia 10 (SPG10)
Synonyms:
SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; Spastic paraplegia 10; SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011408; MedGen: C1858712; Orphanet: 100991; OMIM: 604187

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196379OMIM
no assertion criteria provided
Pathogenic
(Aug 12, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H.

Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9.

PubMed [citation]
PMID:
25008398
PMCID:
PMC4141994

Details of each submission

From OMIM, SCV000196379.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 brothers with variable manifestations of spastic paraplegia-10 (SPG10; 604187), Liu et al. (2014) identified a heterozygous c.694G-A transition in exon 8 of the KIF5A gene, resulting in an asp232-to-asn (D232N) substitution at a highly conserved residue in the switch II region of the motor domain. The mutation was not found in the Exome Variant Server database or in 221 control exomes. One brother presented with axonal peripheral neuropathy at age 40 years and later developed spasticity, whereas his brother had pure spastic paraplegia. Functional studies of the variant were not performed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 1, 2023