NM_001814.6(CTSC):c.1047del (p.Gly350fs) AND Papillon-Lefèvre syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1999
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:: RCV000007716.5

Allele description [Variation Report for NM_001814.6(CTSC):c.1047del (p.Gly350fs)]

NM_001814.6(CTSC):c.1047del (p.Gly350fs)

Gene:

CTSC:cathepsin C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q14.2

Genomic location:

Preferred name:

NM_001814.6(CTSC):c.1047del (p.Gly350fs)

HGVS:

NC_000011.10:g.88294351del
NG_007952.1:g.48423del
NM_001814.6:c.1047delMANE SELECT
NP_001805.4:p.Gly350fs
LRG_50t1:c.1047del
LRG_50:g.48423del
NC_000011.9:g.88027519del
NM_001814.4:c.1047del

Note:

NCBI staff reviewed the sequence information reported in PubMed 10593994 Fig. 4A to determine the location of this allele on the current reference sequence.

Protein change:

G350fs

Links:

OMIM: 602365.0005

Molecular consequence:

NM_001814.6:c.1047del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Papillon-Lefèvre syndrome (PALS)
Synonyms:: Hyperkeratosis palmoplantaris with periodontosis; Keratoris palmoplantaris with periodontopathia; Palmar-plantar hyperkeratosis and concomitant periodontal destruction; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009490; MedGen: C0030360; Orphanet: 678; OMIM: 245000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027917	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027917

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1999)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, Zhang Y, Firatli E.

J Med Genet. 1999 Dec;36(12):881-7.

PubMed [citation]

PMID:: 10593994
PMCID:: PMC1734286

Details of each submission

From OMIM, SCV000027917.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a consanguineous Turkish family with Papillon-Lefevre syndrome (PALS; 245000), Hart et al. (1999) found a homozygous 1-bp deletion at nucleotide 2692 (codon 349 of the CTSC gene product), causing a frameshift and premature termination 27 bases downstream.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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