U.S. flag

An official website of the United States government

NM_004984.4(KIF5A):c.646_648del (p.Glu216del) AND Inherited neurodegenerative disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2023
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:
RCV003458993.1

Allele description [Variation Report for NM_004984.4(KIF5A):c.646_648del (p.Glu216del)]

NM_004984.4(KIF5A):c.646_648del (p.Glu216del)

Gene:
KIF5A:kinesin family member 5A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_004984.4(KIF5A):c.646_648del (p.Glu216del)
HGVS:
  • NC_000012.12:g.57567550_57567552del
  • NG_008155.1:g.22487_22489del
  • NM_001354705.2:c.379_381del
  • NM_004984.4:c.646_648delMANE SELECT
  • NP_001341634.1:p.Glu127del
  • NP_004975.2:p.Glu216del
  • NC_000012.11:g.57961333_57961335del
Protein change:
E127del
Molecular consequence:
  • NM_001354705.2:c.379_381del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004984.4:c.646_648del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Inherited neurodegenerative disorder
Identifiers:
MONDO: MONDO:0024237; MedGen: C5680568

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004177114Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV004177114.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The KIF5A c.646_648del (p.Glu216del) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant deletes a single glutamic acid from a beta sheet in the kinesin motor domain, a region that is enriched for pathogenic variation (ClinVar, Mutscore; Quinodoz M et al., PMID: 35120630). Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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

Last Updated: Dec 30, 2023