NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) AND Pachyonychia congenita 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 1998
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:: RCV000114415.5

Allele description [Variation Report for NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)]

NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)

Gene:

KRT17:keratin 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)

HGVS:

NC_000017.11:g.41624230G>A
NG_008625.1:g.5401C>T
NG_009090.2:g.167483C>T
NM_000422.3:c.280C>TMANE SELECT
NP_000413.1:p.Arg94Cys
LRG_1345t1:c.280C>T
LRG_1345:g.5401C>T
LRG_1345p1:p.Arg94Cys
LRG_401:g.167483C>T
NC_000017.10:g.39780482G>A
NM_000422.2:c.280C>T
Q04695:p.Arg94Cys

Protein change:

R94C; ARG94CYS

Links:

UniProtKB: Q04695#VAR_010513; OMIM: 148069.0006; dbSNP: rs58730926

NCBI 1000 Genomes Browser:

rs58730926

Molecular consequence:

NM_000422.3:c.280C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pachyonychia congenita 2 (PC2)
Synonyms:: Pachyonychia congenita Jackson Lawler type; Jackson-Lawler syndrome; PC-K17
Identifiers:: MONDO: MONDO:0008174; MedGen: C1721007; Orphanet: 2309; OMIM: 167210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148347	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1998)	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

SCV000148347

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1998)

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

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH.

Br J Dermatol. 1998 Sep;139(3):475-80.

PubMed [citation]

PMID:: 9767294

Details of each submission

From OMIM, SCV000148347.3

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

Description

Covello et al. (1998) reported 2 unrelated kindreds with the identical missense mutation (arg94-to-cys; R94C) in the 1A domain of keratin-17. However, whereas the affected mother and son of the first kindred had the classic features of Jackson-Lawler pachyonychia congenita (PC2; 167210), the affected Dutch Caucasian mother, son, and daughter in the second family had the steatocystoma multiplex phenotype (184500) without any nail changes or other skin, hair, or mucosal abnormalities.

#	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: Oct 20, 2024

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