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NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) AND Hereditary spastic paraplegia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 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:
RCV000167867.2

Allele description [Variation Report for NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)]

NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)

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.206C>T (p.Ser69Leu)
HGVS:
  • NC_000002.12:g.240788208G>A
  • NG_029724.1:g.37000C>T
  • NM_001244008.2:c.206C>TMANE SELECT
  • NM_001320705.2:c.206C>T
  • NM_001330289.2:c.206C>T
  • NM_001330290.2:c.206C>T
  • NM_001379631.1:c.206C>T
  • NM_001379632.1:c.206C>T
  • NM_001379633.1:c.206C>T
  • NM_001379634.1:c.206C>T
  • NM_001379635.1:c.206C>T
  • NM_001379636.1:c.206C>T
  • NM_001379637.1:c.206C>T
  • NM_001379638.1:c.206C>T
  • NM_001379639.1:c.206C>T
  • NM_001379640.1:c.206C>T
  • NM_001379641.1:c.206C>T
  • NM_001379642.1:c.206C>T
  • NM_001379645.1:c.206C>T
  • NM_001379646.1:c.206C>T
  • NM_001379648.1:c.206C>T
  • NM_001379649.1:c.206C>T
  • NM_001379650.1:c.206C>T
  • NM_001379651.1:c.206C>T
  • NM_001379653.1:c.206C>T
  • NM_004321.8:c.206C>T
  • NP_001230937.1:p.Ser69Leu
  • NP_001230937.1:p.Ser69Leu
  • NP_001307634.1:p.Ser69Leu
  • NP_001317218.1:p.Ser69Leu
  • NP_001317219.1:p.Ser69Leu
  • NP_001366560.1:p.Ser69Leu
  • NP_001366561.1:p.Ser69Leu
  • NP_001366562.1:p.Ser69Leu
  • NP_001366563.1:p.Ser69Leu
  • NP_001366564.1:p.Ser69Leu
  • NP_001366565.1:p.Ser69Leu
  • NP_001366566.1:p.Ser69Leu
  • NP_001366567.1:p.Ser69Leu
  • NP_001366568.1:p.Ser69Leu
  • NP_001366569.1:p.Ser69Leu
  • NP_001366570.1:p.Ser69Leu
  • NP_001366571.1:p.Ser69Leu
  • NP_001366574.1:p.Ser69Leu
  • NP_001366575.1:p.Ser69Leu
  • NP_001366577.1:p.Ser69Leu
  • NP_001366578.1:p.Ser69Leu
  • NP_001366579.1:p.Ser69Leu
  • NP_001366580.1:p.Ser69Leu
  • NP_001366582.1:p.Ser69Leu
  • NP_004312.2:p.Ser69Leu
  • NP_004312.2:p.Ser69Leu
  • LRG_367t1:c.206C>T
  • LRG_367t2:c.206C>T
  • LRG_367:g.37000C>T
  • LRG_367p1:p.Ser69Leu
  • LRG_367p2:p.Ser69Leu
  • NC_000002.11:g.241727625G>A
  • NM_001244008.1:c.206C>T
  • NM_004321.6:c.206C>T
  • NM_004321.7:c.206C>T
  • Q12756:p.Ser69Leu
Protein change:
S69L; SER69LEU
Links:
UniProtKB: Q12756#VAR_077467; OMIM: 601255.0014; dbSNP: rs786200949
NCBI 1000 Genomes Browser:
rs786200949
Molecular consequence:
  • NM_001244008.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary spastic paraplegia
Synonyms:
Familial spastic paraparesis
Identifiers:
MONDO: MONDO:0019064; MedGen: C0037773; OMIM: PS303350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191086Neuromuscular disorders lab, University of Helsinki
no assertion criteria provided
Pathogenic
(Oct 27, 2014) 		inherited, de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H.

Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.

PubMed [citation]
PMID:
25585697
PMCID:
PMC4592090

Details of each submission

From Neuromuscular disorders lab, University of Helsinki, SCV000191086.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
2not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided
2de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024