NM_002273.4(KRT8):c.187A>G (p.Ile63Val) AND Hepatitis C virus, susceptibility to

Germline classification:: Benign (1 submission)
Last evaluated:: May 28, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000988858.1

Allele description [Variation Report for NM_002273.4(KRT8):c.187A>G (p.Ile63Val)]

NM_002273.4(KRT8):c.187A>G (p.Ile63Val)

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.187A>G (p.Ile63Val)

HGVS:

NC_000012.12:g.52904795T>C
NG_008402.2:g.50072A>G
NM_001256282.2:c.271A>G
NM_001256293.2:c.187A>G
NM_002273.4:c.187A>GMANE SELECT
NP_001243211.1:p.Ile91Val
NP_001243222.1:p.Ile63Val
NP_002264.1:p.Ile63Val
NC_000012.11:g.53298579T>C
NM_002273.3:c.187A>G
NR_045962.2:n.638A>G
P05787:p.Ile63Val

Protein change:

I63V

Links:

UniProtKB: P05787#VAR_023061; dbSNP: rs59536457

NCBI 1000 Genomes Browser:

rs59536457

Molecular consequence:

NM_001256282.2:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256293.2:c.187A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002273.4:c.187A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_045962.2:n.638A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hepatitis C virus, susceptibility to
Synonyms:: HCV, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0012292; MedGen: C1835407; OMIM: 609532

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001138750	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001138750

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001138750.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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