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NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter) AND Prekallikrein deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2004
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:
RCV000012813.16

Allele description [Variation Report for NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter)]

NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter)

Gene:
KLKB1:kallikrein B1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter)
Other names:
R94*
HGVS:
  • NC_000004.12:g.186236789C>T
  • NG_012095.2:g.32811C>T
  • NM_000892.5:c.337C>TMANE SELECT
  • NM_001318394.2:c.223C>T
  • NM_001318396.2:c.-301C>T
  • NP_000883.2:p.Arg113Ter
  • NP_001305323.1:p.Arg75Ter
  • LRG_565t1:c.337C>T
  • LRG_565:g.32811C>T
  • LRG_565p1:p.Arg113Ter
  • NC_000004.11:g.187157943C>T
Protein change:
R113*; ARG94TER
Links:
OMIM: 229000.0001; dbSNP: rs121964949
NCBI 1000 Genomes Browser:
rs121964949
Molecular consequence:
  • NM_001318396.2:c.-301C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000892.5:c.337C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318394.2:c.223C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Prekallikrein deficiency
Synonyms:
FLETCHER FACTOR DEFICIENCY; PKK DEFICIENCY
Identifiers:
MONDO: MONDO:0044744; MedGen: C0272339

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033053OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation.

Wynne Jones D, Russell G, Allford SL, Burdon K, Hawkins GA, Bowden DW, Minaee S, Mumford AD.

Br J Haematol. 2004 Oct;127(2):220-3.

PubMed [citation]
PMID:
15461630

Details of each submission

From OMIM, SCV000033053.1

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

Description

In a 79-year-old Caucasian male with prekallikrein deficiency (612423) whose parents were first cousins, Wynne Jones et al. (2004) identified a homozygous 430C-T transition in exon 5 of the KLKB1 gene, resulting in an arg94-to-ter (R94X) substitution. The patient presented with a 6-month history of stable exertional angina but otherwise had no significant past medical history. Coronary angiography and coronary artery bypass grafting were not complicated by abnormal bleeding; however, he had prolongation of the activated partial thromboplastin time (aPTT). Five heterozygous offspring of the proband each showed a normal aPTT but reduced prekallikrein activity and antigen. This was the first description of a kindred in which absence of expression of one or both KLKB1 alleles was confirmed by genotype.

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

Last Updated: Apr 23, 2022