NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) AND Cirrhosis, cryptogenic

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 2003
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:: RCV000015735.34

Allele description [Variation Report for NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)]

NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)

Gene:

KRT8:keratin 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)

Other names:

G61C

HGVS:

NC_000012.12:g.52904798C>A
NG_008402.2:g.50069G>T
NM_001256282.2:c.268G>T
NM_001256293.2:c.184G>T
NM_002273.4:c.184G>TMANE SELECT
NP_001243211.1:p.Gly90Cys
NP_001243222.1:p.Gly62Cys
NP_002264.1:p.Gly62Cys
NC_000012.11:g.53298582C>A
NC_000012.11:g.53298582C>A
NM_002273.3:c.184G>T
NR_045962.2:n.635G>T
P05787:p.Gly62Cys

Protein change:

G62C; GLY61CYS

Links:

UniProtKB: P05787#VAR_023060; OMIM: 148060.0001; dbSNP: rs11554495

NCBI 1000 Genomes Browser:

rs11554495

Molecular consequence:

NM_001256282.2:c.268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256293.2:c.184G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002273.4:c.184G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_045962.2:n.635G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cirrhosis, cryptogenic
Identifiers:: MedGen: C0267809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036000	OMIM	no assertion criteria provided	Uncertain significance (May 13, 2003)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 11372009, 12724528, 15235035

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036000

OMIM

no assertion criteria provided

Uncertain significance
(May 13, 2003)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

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 8 mutations in patients with cryptogenic liver disease.

Ku NO, Gish R, Wright TL, Omary MB.

N Engl J Med. 2001 May 24;344(21):1580-7.

PubMed [citation]

PMID:: 11372009

Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.

Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB.

Proc Natl Acad Sci U S A. 2003 May 13;100(10):6063-8. Epub 2003 Apr 30.

PubMed [citation]

PMID:: 12724528
PMCID:: PMC156326

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036000.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

This variant, formerly titled CIRRHOSIS, CRYPTOGENIC OR NONCRYPTOGENIC, SUSCEPTIBILITY TO, has been reclassified as a variant of unknown significance based on the findings of Halangk et al. (2004).

In 3 of 55 patients with cryptogenic cirrhosis (see 215600), Ku et al. (2001) found a gly61-to-cys (G61C) missense mutation in the keratin 8 gene.

Ku et al. (2003) found the G61C mutation in a few patients with noncryptogenic cirrhosis, and concluded that this mutation causes susceptibility to noncryptogenic cirrhosis.

Halangk et al. (2004) studied the frequency of the G61C variant in the KRT8 gene in 1,667 patients with various liver diseases, including cirrhosis, and in 679 healthy controls. The G62C variant was found in 27 patients (1.6%) in 12 controls (1.8%). Halangk et al. (2004) concluded that the G61C variant does not predispose to chronic liver disease, including cryptogenic cirrhosis.

#	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: Nov 10, 2024

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