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NM_152515.5(CKAP2L):c.751del (p.Ser251fs) AND Filippi syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 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:
RCV000149782.4

Allele description [Variation Report for NM_152515.5(CKAP2L):c.751del (p.Ser251fs)]

NM_152515.5(CKAP2L):c.751del (p.Ser251fs)

Gene:
CKAP2L:cytoskeleton associated protein 2 like [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q14.1
Genomic location:
Preferred name:
NM_152515.5(CKAP2L):c.751del (p.Ser251fs)
HGVS:
  • NC_000002.12:g.112756622del
  • NG_041820.1:g.13058del
  • NM_001304361.2:c.256del
  • NM_152515.5:c.751delMANE SELECT
  • NP_001291290.1:p.Ser86fs
  • NP_689728.3:p.Ser251fs
  • NC_000002.11:g.113514199del
  • NM_152515.4:c.751del
Protein change:
S251fs
Links:
OMIM: 616174.0004; dbSNP: rs727502804
NCBI 1000 Genomes Browser:
rs727502804
Molecular consequence:
  • NM_001304361.2:c.256del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152515.5:c.751del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Filippi syndrome (FLPIS)
Identifiers:
MONDO: MONDO:0010092; MedGen: C0795940; Orphanet: 3255; OMIM: 272440

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196595OMIM
no assertion criteria provided
Pathogenic
(Nov 6, 2014) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, et al.

Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.

PubMed [citation]
PMID:
25439729
PMCID:
PMC4225581

Details of each submission

From OMIM, SCV000196595.2

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

Description

For discussion of the 1-bp deletion in the CKAP2L gene (c.751delA) that was found in compound heterozygous state in a patient with Filippi syndrome (FLPIS; 272440) by Hussain et al. (2014), see 616174.0003.

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

Last Updated: Apr 23, 2022