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NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) AND Fibrosis of extraocular muscles, congenital, 3b

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2008
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:
RCV000002541.6

Allele description [Variation Report for NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)]

NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)

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.2861G>A (p.Arg954Gln)
HGVS:
  • NC_000012.12:g.39332404C>T
  • NG_017067.1:g.115987G>A
  • NM_001173463.2:c.2822G>A
  • NM_001173464.2:c.2861G>AMANE SELECT
  • NM_001173465.2:c.2753G>A
  • NM_017641.4:c.2822G>A
  • NP_001166934.1:p.Arg941Gln
  • NP_001166935.1:p.Arg954Gln
  • NP_001166936.1:p.Arg918Gln
  • NP_060111.2:p.Arg941Gln
  • NC_000012.11:g.39726206C>T
  • NM_017641.3:c.2822G>A
  • Q7Z4S6:p.Arg954Gln
Protein change:
R918Q; ARG954GLN
Links:
UniProtKB: Q7Z4S6#VAR_019402; OMIM: 608283.0002; dbSNP: rs121912586
NCBI 1000 Genomes Browser:
rs121912586
Molecular consequence:
  • NM_001173463.2:c.2822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173464.2:c.2861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173465.2:c.2753G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017641.4:c.2822G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fibrosis of extraocular muscles, congenital, 3b
Identifiers:
MONDO: MONDO:0800209; MedGen: C2751105

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022699OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2008) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, et al.

Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.

PubMed [citation]
PMID:
14595441

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.

Lu S, Zhao C, Zhao K, Li N, Larsson C.

Arch Ophthalmol. 2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388.

PubMed [citation]
PMID:
18332320

Details of each submission

From OMIM, SCV000022699.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In patients with congenital fibrosis of extraocular muscles-1 (135700), Yamada et al. (2003) identified a G-to-A transition at nucleotide 2861 of the KIF21A gene, resulting in an arg954-to-gln (R954Q) substitution. The R954W (608283.0001) and R954Q mutations are located in the first and second nucleotide positions of codon 954, respectively.

Lu et al. (2008) identified a heterozygous R954Q mutation in affected members of a Chinese family with a phenotype consistent with CFEOM3 (CFEOM3B; see 135700) due to variable involvement and severity of ophthalmoplegia and ptosis. Five individuals had a classic phenotype with bilateral severe ptosis, restricted upgaze, and compensatory head position. By contrast, 3 individuals had at least 1 eye with mild ptosis, residual upgaze, or the ability to elevate above the midline. Two additional family members had varying ptosis without compensatory head position. Finally, 1 individual, who was an obligate carrier, had only subtle symptoms with mild limitation of vertical ocular motility without ptosis, strabismus, or compensatory head position.

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

Last Updated: Jun 23, 2024