NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) 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:: RCV000015701.27

Allele description [Variation Report for NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)]

NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)

Gene:

KRT17:keratin 17 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)

HGVS:

NC_000017.11:g.41624218AGG[1]
NG_008625.1:g.5408CCT[1]
NG_009090.2:g.167490CCT[1]
NM_000422.3:c.287CCT[1]MANE SELECT
NP_000413.1:p.Ser97del
LRG_1345t1:c.287CCT[1]
LRG_1345:g.5408CCT[1]
LRG_1345p1:p.Ser97del
LRG_401:g.167490CCT[1]
NC_000017.10:g.39780470AGG[1]
NM_000422.2:c.290_292del

Protein change:

S97del; SER97DEL

Links:

OMIM: 148069.0012; dbSNP: rs121912478

NCBI 1000 Genomes Browser:

rs121912478

Molecular consequence:

NM_000422.3:c.287CCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000035966	OMIM	no assertion criteria provided	Pathogenic (Dec 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

SCV000035966

OMIM

no assertion criteria provided

Pathogenic
(Dec 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

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, SCV000035966.3

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

Description

In a patient with sporadic pachyonychia congenita (PC2; 167210), Terrinoni et al. (2001) reported a deletion of 3 nucleotides at position 289 of the KRT17 gene (289delCCT), predicting deletion of serine-97 (S97del) in the 1A domain. This mutation may also be referred to as S13del.

#	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: Feb 7, 2023

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