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NM_002273.4(KRT8):c.160T>C (p.Tyr54His) AND Cirrhosis, cryptogenic

Germline classification:
Uncertain significance; risk factor (2 submissions)
Last evaluated:
Jan 6, 2020
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:
RCV000015737.28

Allele description [Variation Report for NM_002273.4(KRT8):c.160T>C (p.Tyr54His)]

NM_002273.4(KRT8):c.160T>C (p.Tyr54His)

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.160T>C (p.Tyr54His)
Other names:
Y53H
HGVS:
  • NC_000012.12:g.52904822A>G
  • NG_008402.2:g.50045T>C
  • NM_001256282.2:c.244T>C
  • NM_001256293.2:c.160T>C
  • NM_002273.4:c.160T>CMANE SELECT
  • NP_001243211.1:p.Tyr82His
  • NP_001243222.1:p.Tyr54His
  • NP_002264.1:p.Tyr54His
  • NC_000012.11:g.53298606A>G
  • NM_002273.3:c.160T>C
  • NR_045962.2:n.611T>C
Protein change:
Y54H; TYR53HIS
Links:
OMIM: 148060.0002; dbSNP: rs57749775
NCBI 1000 Genomes Browser:
rs57749775
Molecular consequence:
  • NM_001256282.2:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256293.2:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002273.4:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045962.2:n.611T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cirrhosis, cryptogenic
Identifiers:
MedGen: C0267809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036002OMIM
no assertion criteria provided
Uncertain significance
(May 24, 2001)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001142432Reproductive Health Research and Development, BGI Genomics
no assertion criteria provided
risk factor
(Jan 6, 2020)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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 Y54H and G62C mutations are not associated with liver disease.

Halangk J, Berg T, Puhl G, Mueller T, Nickel R, Kage A, Landt O, Luck W, Wiedenmann B, Neuhaus P, Witt H.

J Med Genet. 2004 Jul;41(7):e92. No abstract available.

PubMed [citation]
PMID:
15235035
PMCID:
PMC1735848

Details of each submission

From OMIM, SCV000036002.2

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

Description

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

In 2 of 55 patients with cryptogenic cirrhosis (see 215600), Ku et al. (2001) found a tyr53-to-his (T53H) missense mutation in the KRT8 gene.

Halangk et al. (2004) studied the frequency of the Y53H variant in the KRT8 gene in 1,667 patients with various liver diseases, including cirrhosis, and in 679 healthy controls. The Y53H variant was found in 2 patients (0.1%) and in 1 control (0.1%). Halangk et al. (2004) concluded that the Y53H variant gene does not predispose to chronic liver disease, including cryptogenic cirrhosis.

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

From Reproductive Health Research and Development, BGI Genomics, SCV001142432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_002273.3:c.160T>C in the KRT8 gene has an allele frequency of 0.022 in African subpopulation in the gnomAD database. Two patients with liver disease or noncryptogenic chronic or acute liver disease were found to have this variant (PMID: 11372009). The author proposed that mutations in the keratin 8 gene may predispose people to liver disease (PMID: 11372009; PMID: 12724528). Taken together, we interprete this variant as risk factor variant.

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

Last Updated: Dec 24, 2023