NM_001102416.3(KNG1):c.1216dup (p.His406fs) AND High molecular weight kininogen deficiency

Germline classification:: Affects (1 submission)
Last evaluated:: Jun 1, 2007
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:: RCV000000605.4

Allele description [Variation Report for NM_001102416.3(KNG1):c.1216dup (p.His406fs)]

NM_001102416.3(KNG1):c.1216dup (p.His406fs)

Gene:

KNG1:kininogen 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q27.3

Genomic location:

Preferred name:

NM_001102416.3(KNG1):c.1216dup (p.His406fs)

HGVS:

NC_000003.12:g.186741612dup
NG_016009.1:g.29304dup
NM_000893.4:c.1203+13dup
NM_001102416.3:c.1216dupMANE SELECT
NM_001166451.2:c.1095+13dup
NP_001095886.1:p.His406fs
LRG_598t1:c.1203+13dup
LRG_598t2:c.1216dup
LRG_598:g.29304dup
LRG_598p2:p.His406fs
NC_000003.11:g.186459401dup
NM_001102416.2:c.1216dup

Protein change:

H406fs

Links:

OMIM: 612358.0004; dbSNP: rs797044430

NCBI 1000 Genomes Browser:

rs797044430

Molecular consequence:

NM_001102416.3:c.1216dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000893.4:c.1203+13dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001166451.2:c.1095+13dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: High molecular weight kininogen deficiency
Synonyms:: FITZGERALD TRAIT; Flaujeac factor deficiency; Reduced kininogen activity; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009234; MedGen: C0272340; OMIM: 228960; Human Phenotype Ontology: HP:0005527

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020755	OMIM	no assertion criteria provided	Affects (Jun 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1968772, 17522339

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020755

OMIM

no assertion criteria provided

Affects
(Jun 1, 2007)

germline

literature only

PubMed (2)
[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

Molecular genetic survey of five Japanese families with high-molecular-weight kininogen deficiency.

Hayashi H, Ishimaru F, Fujita T, Tsurumi N, Tsuda T, Kimura I.

Blood. 1990 Mar 15;75(6):1296-304.

PubMed [citation]

PMID:: 1968772

Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10.

Shigekiyo T, Miyagi J, Shirakami A, Shibata H, Tsukai K, Aihara K.

Blood. 2007 Jun 1;109(11):5062-3. No abstract available.

PubMed [citation]

PMID:: 17522339

Details of each submission

From OMIM, SCV000020755.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Using restriction analysis, Hayashi et al. (1990) found that a Japanese patient with isolated HMWK deficiency (228960) had a partial deletion in intron 7 of the KNG1 gene. This partial deletion was assumed to be related to an abnormality of alternative splicing of HMW prekininogen mRNA. However, Shigekiyo et al. (2007) found that this patient with isolated HMWK deficiency was homozygous for a 1-bp insertion (C) at nucleotide 1217 in exon 10 of the KNG1 gene. The insertion resulted in a frameshift in codon 406 and a premature stop signal in codon 415. The patient's brother and parents, who were second cousins, were heterozygous for the mutation.

#	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: Apr 23, 2022

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