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NM_000422.3(KRT17):c.281G>A (p.Arg94His) AND Pachyonychia congenita 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 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:
RCV000114414.4

Allele description [Variation Report for NM_000422.3(KRT17):c.281G>A (p.Arg94His)]

NM_000422.3(KRT17):c.281G>A (p.Arg94His)

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.281G>A (p.Arg94His)
HGVS:
  • NC_000017.11:g.41624229C>T
  • NG_008625.1:g.5402G>A
  • NG_009090.2:g.167484G>A
  • NM_000422.3:c.281G>AMANE SELECT
  • NP_000413.1:p.Arg94His
  • LRG_1345t1:c.281G>A
  • LRG_1345:g.5402G>A
  • LRG_1345p1:p.Arg94His
  • LRG_401:g.167484G>A
  • NC_000017.10:g.39780481C>T
  • NM_000422.2:c.281G>A
  • Q04695:p.Arg94His
Protein change:
R94H; ARG94HIS
Links:
UniProtKB: Q04695#VAR_003850; OMIM: 148069.0005; dbSNP: rs28928897
NCBI 1000 Genomes Browser:
rs28928897
Molecular consequence:
  • NM_000422.3:c.281G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000148346OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2001) 		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

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH.

J Invest Dermatol. 1997 Feb;108(2):220-3.

PubMed [citation]
PMID:
9008238

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH.

J Invest Dermatol. 2001 Dec;117(6):1391-6.

PubMed [citation]
PMID:
11886499

Details of each submission

From OMIM, SCV000148346.2

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

Description

In a kindred in which 8 individuals in 3 generations had steatocystoma multiplex (184500), Smith et al. (1997) found heterozygosity for a purine transition, c.429G-A, causing a predicted arg94-to-his (R94H) substitution. The mutation occurred in residue 10 of the KRT17 helix initiation peptide and potentially was a CpG deamination mutation. Although originally diagnosed with steatocystoma multiplex, on restudy some but not all of the patients were found to have mild nail changes compatible with those of pachyonychia congenita (see PC2, 167210).

Terrinoni et al. (2001) reported this mutation in a patient with sporadic pachyonychia congenita (PC2).

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

Last Updated: Dec 22, 2024