NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) AND High molecular weight kininogen deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490309.1

Allele description [Variation Report for NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs)]

NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs)

Gene:

KNG1:kininogen 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q27.3

Genomic location:

Preferred name:

NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs)

HGVS:

NC_000003.12:g.186742262_186742265del
NG_016009.1:g.29954_29957del
NM_000893.4:c.1203+663_1203+666del
NM_001102416.3:c.1866_1869delMANE SELECT
NM_001166451.2:c.1095+663_1095+666del
NP_001095886.1:p.Ser623fs
LRG_598t1:c.1203+663_1203+666del
LRG_598t2:c.1866_1869del
LRG_598:g.29954_29957del
LRG_598p2:p.Ser623fs
NC_000003.11:g.186460051_186460054del
NM_001102416.2:c.1866_1869delTAGT

Protein change:

S623fs

Links:

dbSNP: rs559129841

NCBI 1000 Genomes Browser:

rs559129841

Molecular consequence:

NM_001102416.3:c.1866_1869del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000893.4:c.1203+663_1203+666del - intron variant - [Sequence Ontology: SO:0001627]
NM_001166451.2:c.1095+663_1095+666del - 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
SCV000267381	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 17522339, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267381

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

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
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267381.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

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

Last Updated: Apr 23, 2022

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