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NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) AND Amyotrophic lateral sclerosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 9, 2020
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:
RCV001260220.11

Allele description [Variation Report for NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)]

NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)

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.2927C>T (p.Thr976Ile)
HGVS:
  • NC_000012.12:g.57581887C>T
  • NG_008155.1:g.36824C>T
  • NM_001354705.2:c.2660C>T
  • NM_004984.4:c.2927C>TMANE SELECT
  • NP_001341634.1:p.Thr887Ile
  • NP_004975.2:p.Thr976Ile
  • NC_000012.11:g.57975670C>T
  • NM_004984.2:c.2927C>T
Protein change:
T887I
Links:
dbSNP: rs139801016
NCBI 1000 Genomes Browser:
rs139801016
Molecular consequence:
  • NM_001354705.2:c.2660C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004984.4:c.2927C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyotrophic lateral sclerosis (ALS)
Synonyms:
Lou Gehrig disease; Charcot disease
Identifiers:
MONDO: MONDO:0004976; MedGen: C0002736; Human Phenotype Ontology: HP:0007354

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001437189UM ALS/MND Lab, University Of Malta
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 9, 2020) 		unknowncase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Malteseunknownyes1not providednot providednot providednot providedcase-control

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 UM ALS/MND Lab, University Of Malta, SCV001437189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Maltese1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024