NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) AND Papillon-Lefèvre syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2001
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:: RCV000007720.4

Allele description

NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)

Gene:

CTSC:cathepsin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.2

Genomic location:

Preferred name:

NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)

HGVS:

NC_000011.10:g.88294497C>T
NG_007952.1:g.48277G>A
NM_001814.6:c.901G>AMANE SELECT
NP_001805.4:p.Gly301Ser
LRG_50t1:c.901G>A
LRG_50:g.48277G>A
LRG_50p1:p.Gly301Ser
NC_000011.9:g.88027665C>T
NM_001814.5:c.901G>A
P53634:p.Gly301Ser

Protein change:

G301S; GLY301SER

Links:

UniProtKB: P53634#VAR_009544; OMIM: 602365.0009

Molecular consequence:

NM_001814.6:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000027921	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2001)	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

SCV000027921

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2001)

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

Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.

Nakano A, Nomura K, Nakano H, Ono Y, LaForgia S, Pulkkinen L, Hashimoto I, Uitto J.

J Invest Dermatol. 2001 Feb;116(2):339-43.

PubMed [citation]

PMID:: 11180012

Details of each submission

From OMIM, SCV000027921.3

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

Description

In their family 2 with Papillon-Lefevre syndrome (PALS; 245000), Nakano et al. (2001) identified a homozygous 901G-A transition in the CTSC gene, resulting in a gly301-to-ser (G301S) substitution at a highly conserved residue within the cathepsin C polypeptide. The parents were heterozygous for the mutation.

#	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: Apr 13, 2021

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