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NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) AND KIF21A-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 26, 2024
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:
RCV003398420.6

Allele description [Variation Report for NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)]

NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)

Gene:
KIF21A:kinesin family member 21A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
Other names:
NM_001173464.2(KIF21A):c.2860C>T
HGVS:
  • NC_000012.12:g.39332405G>A
  • NG_017067.1:g.115986C>T
  • NM_001173463.2:c.2821C>T
  • NM_001173464.2:c.2860C>TMANE SELECT
  • NM_001173465.2:c.2752C>T
  • NM_017641.4:c.2821C>T
  • NP_001166934.1:p.Arg941Trp
  • NP_001166935.1:p.Arg954Trp
  • NP_001166936.1:p.Arg918Trp
  • NP_060111.2:p.Arg941Trp
  • NC_000012.11:g.39726207G>A
  • NM_001173464.1:c.2860C>T
  • NM_017641.3:c.2821C>T
  • NM_017641.4:c.2821C>T
  • Q7Z4S6:p.Arg954Trp
Protein change:
R918W; ARG954TRP
Links:
UniProtKB: Q7Z4S6#VAR_019403; OMIM: 608283.0001; dbSNP: rs121912585
NCBI 1000 Genomes Browser:
rs121912585
Molecular consequence:
  • NM_001173463.2:c.2821C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173464.2:c.2860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173465.2:c.2752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017641.4:c.2821C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
KIF21A-related disorder
Synonyms:
KIF21A-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004104605PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jan 26, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004104605.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The KIF21A c.2860C>T variant is predicted to result in the amino acid substitution p.Arg954Trp. This variant is the most commonly reported variant in individuals with autosomal dominant congenital fibrosis of the extraocular muscles (Yamada et al. 2003. PubMed ID: 14595441; Rudolph et al. 2009. PubMed ID: 19551685; Yang et al. 2010. PubMed ID: 21042561). This variant has not been documented in a large population database, indicating it is rare. This variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/2436). Given all the evidence, we interpret c.2860C>T (p.Arg954Trp) as pathogenic.

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

Last Updated: Nov 30, 2024