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NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs) AND Cranioectodermal dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 2024
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:
RCV004771605.1

Allele description [Variation Report for NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)]

NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)

Gene:
CILK1:ciliogenesis associated kinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p12.1
Genomic location:
Preferred name:
NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)
HGVS:
  • NC_000006.12:g.53006395_53006396del
  • NG_012159.2:g.60408_60409del
  • NM_001375397.1:c.1685_1686del
  • NM_001375398.1:c.1664_1665del
  • NM_001375399.1:c.1664_1665del
  • NM_001375400.1:c.1664_1665del
  • NM_001375401.1:c.1664_1665del
  • NM_001375402.1:c.1664_1665del
  • NM_014920.5:c.1664_1665delMANE SELECT
  • NM_016513.5:c.1664_1665del
  • NP_001362326.1:p.Tyr562fs
  • NP_001362327.1:p.Tyr555fs
  • NP_001362328.1:p.Tyr555fs
  • NP_001362329.1:p.Tyr555fs
  • NP_001362330.1:p.Tyr555fs
  • NP_001362331.1:p.Tyr555fs
  • NP_055735.1:p.Tyr555fs
  • NP_057597.2:p.Tyr555fs
  • NC_000006.11:g.52871193_52871194del
  • NM_014920.5:c.1664_1665delATMANE SELECT
  • NR_164684.1:n.2176_2177del
Protein change:
Y555fs
Molecular consequence:
  • NM_001375397.1:c.1685_1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375398.1:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375399.1:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375400.1:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375401.1:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375402.1:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014920.5:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016513.5:c.1664_1665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_164684.1:n.2176_2177del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cranioectodermal dysplasia
Synonyms:
Cranioectoderma; Sensenbrenner syndrome
Identifiers:
MONDO: MONDO:0009032; MedGen: C4551571; OMIM: PS218330

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005374869Medical Genetics Laboratory, Etlik City Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 17, 2024) 		biparentalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkmenbiparentalyes212not providednot providednot providedresearch

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 Medical Genetics Laboratory, Etlik City Hospital, SCV005374869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkmen21not providednot providedresearch PubMed (1)

Description

The homozygous individuals were affected with cranioectodermal dysplasia. The heterozygous individuals were unaffected for either cranioectodermal dysplasia or CILK1-related other phenotypes (ECO, SRPS or JME10).

Description

The variant was detected as homozygous in four affected individuals with cranioectodermal dysplasia from two pedigrees. The fibroblast studies showed changes in ciliary morphology and ciliogenesis. Rescue trials improved the ciliary phenotype. Thus, the variant was classified as pathogenic (PS3, PM2, PM4, PP1_VS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided21not provided2not provided

Last Updated: Nov 3, 2024