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NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) AND Familial multiple trichoepitheliomata

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2006
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:
RCV000005574.3

Allele description [Variation Report for NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)]

NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)

Genes:
CYLD-AS2:CYLD antisense RNA 2 [Gene - HGNC]
CYLD:CYLD lysine 63 deubiquitinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)
HGVS:
  • NC_000016.10:g.50796443C>T
  • NG_012061.1:g.59394C>T
  • NM_001042355.2:c.2797C>T
  • NM_001042412.3:c.2797C>T
  • NM_001378743.1:c.2806C>TMANE SELECT
  • NM_001378744.1:c.2797C>T
  • NM_001378745.1:c.2797C>T
  • NM_001378746.1:c.2797C>T
  • NM_001378747.1:c.2797C>T
  • NM_001378748.1:c.2797C>T
  • NM_001378749.1:c.2797C>T
  • NM_001378750.1:c.2797C>T
  • NM_001378751.1:c.2767C>T
  • NM_001378752.1:c.2767C>T
  • NM_001378753.1:c.2767C>T
  • NM_001378754.1:c.2131C>T
  • NM_001378755.1:c.2131C>T
  • NM_015247.3:c.2806C>T
  • NP_001035814.1:p.Arg933Ter
  • NP_001035877.1:p.Arg933Ter
  • NP_001365672.1:p.Arg936Ter
  • NP_001365673.1:p.Arg933Ter
  • NP_001365674.1:p.Arg933Ter
  • NP_001365675.1:p.Arg933Ter
  • NP_001365676.1:p.Arg933Ter
  • NP_001365677.1:p.Arg933Ter
  • NP_001365678.1:p.Arg933Ter
  • NP_001365679.1:p.Arg933Ter
  • NP_001365680.1:p.Arg923Ter
  • NP_001365681.1:p.Arg923Ter
  • NP_001365682.1:p.Arg923Ter
  • NP_001365683.1:p.Arg711Ter
  • NP_001365684.1:p.Arg711Ter
  • NP_056062.1:p.Arg936Ter
  • NP_056062.1:p.Arg936Ter
  • LRG_491t1:c.2806C>T
  • LRG_491:g.59394C>T
  • LRG_491p1:p.Arg936Ter
  • NC_000016.9:g.50830354C>T
  • NM_015247.2:c.2806C>T
  • NR_166071.1:n.2895C>T
  • p.[Arg936*]
Protein change:
R711*; ARG936TER
Links:
OMIM: 605018.0008; dbSNP: rs121908390
NCBI 1000 Genomes Browser:
rs121908390
Molecular consequence:
  • NR_166071.1:n.2895C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001042355.2:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042412.3:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378743.1:c.2806C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378744.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378745.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378746.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378747.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378748.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378749.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378750.1:c.2797C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378751.1:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378752.1:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378753.1:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378754.1:c.2131C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378755.1:c.2131C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015247.3:c.2806C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial multiple trichoepitheliomata
Synonyms:
Epithelioma adenoides cysticum of Brooke; Epithelioma hereditary multiple benign cystic; Brooke-Fordyce trichoepitheliomas; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011114; MedGen: C1275122; Orphanet: 79493

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025756OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2006) 		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

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.

Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT.

Clin Genet. 2006 Sep;70(3):246-9.

PubMed [citation]
PMID:
16922728

Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.

Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT.

J Invest Dermatol. 2005 May;124(5):919-20.

PubMed [citation]
PMID:
15854031

Details of each submission

From OMIM, SCV000025756.2

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

Description

In a 73-year-old man with cylindromatosis and turban tumor syndrome (132700), Young et al. (2006) identified a heterozygous 2806C-T transition in the CYLD gene, resulting in an arg936-to-ter (R936X) substitution. His 2 children, who also carried the mutation, had multiple familial trichoepithelioma-1 (601606) without cylindromas. The findings suggested that the 2 disorders represent phenotypic variation of a single genetic defect.

Bowen et al. (2005) identified a heterozygous R936X mutation in a Canadian woman with Brooke-Spiegler syndrome (605041) who had both cylindroma and trichoepithelioma.

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

Last Updated: Sep 16, 2024