U.S. flag

An official website of the United States government

NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs) 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:
RCV000149784.3

Allele description [Variation Report for NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs)]

NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs)

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.554_555del (p.Lys185fs)
HGVS:
  • NC_000002.12:g.112756817_112756818del
  • NG_041820.1:g.12861_12862del
  • NM_001304361.2:c.59_60del
  • NM_152515.5:c.554_555delMANE SELECT
  • NP_001291290.1:p.Lys20fs
  • NP_689728.3:p.Lys185fs
  • NC_000002.11:g.113514394_113514395del
  • NM_152515.4:c.554_555del
Protein change:
K185fs
Links:
OMIM: 616174.0006; dbSNP: rs727502805
NCBI 1000 Genomes Browser:
rs727502805
Molecular consequence:
  • NM_001304361.2:c.59_60del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152515.5:c.554_555del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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
SCV000196597OMIM
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, SCV000196597.1

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

Description

In a 2-year-old Turkish boy with type I syndactyly, microcephaly, and mental retardation (Filippi syndrome; 272440), who was born to first-cousin parents, Hussain et al. (2014) identified homozygosity for a 2-bp deletion (c.554_555delAA), causing a frameshift predicted to result in a premature termination codon (Lys185ArgfsTer11). The patient showed pre- and postnatal growth reduction, moderately severe speech impairment, sparse hair, cryptorchidism, and bilateral cutaneous syndactyly of the second and third toes; he did not have syndactyly of the fingers. His unaffected parents were heterozygous for the 2-bp deletion, which was also found in 3 of 12,507 chromosomes in the NHLBI Exome Variant Server database, but never in homozygous state.

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

Last Updated: Apr 23, 2022