NM_000506.5(F2):c.1274G>A (p.Arg425His) AND Congenital prothrombin deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2002
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:: RCV002468931.8

Allele description [Variation Report for NM_000506.5(F2):c.1274G>A (p.Arg425His)]

NM_000506.5(F2):c.1274G>A (p.Arg425His)

Gene:

F2:coagulation factor II, thrombin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000506.5(F2):c.1274G>A (p.Arg425His)

Other names:

F2, ARG382HIS; R382H

HGVS:

NC_000011.10:g.46728139G>A
NG_008953.1:g.13947G>A
NM_000506.5:c.1274G>AMANE SELECT
NP_000497.1:p.Arg425His
LRG_551:g.13947G>A
NC_000011.9:g.46749689G>A

Protein change:

R425H; ARG382HIS

Links:

OMIM: 176930.0012; dbSNP: rs121918485

NCBI 1000 Genomes Browser:

rs121918485

Molecular consequence:

NM_000506.5:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital prothrombin deficiency
Synonyms:: HYPOPROTHROMBINEMIA; Factor II deficiency; Hereditary factor II deficiency disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013361; MedGen: C0272317; Orphanet: 325; OMIM: 613679

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034489	OMIM	no assertion criteria provided	Pathogenic (Aug 15, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11154146, 12149217

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034489

OMIM

no assertion criteria provided

Pathogenic
(Aug 15, 2002)

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

Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.

Akhavan S, Mannucci PM, Lak M, Mancuso G, Mazzucconi MG, Rocino A, Jenkins PV, Perkins SJ.

Thromb Haemost. 2000 Dec;84(6):989-97.

PubMed [citation]

PMID:: 11154146

Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype.

Akhavan S, De Cristofaro R, Peyvandi F, Lavoretano S, Landolfi R, Mannucci PM.

Blood. 2002 Aug 15;100(4):1347-53.

PubMed [citation]

PMID:: 12149217

Details of each submission

From OMIM, SCV000034489.1

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

Description

Akhavan et al. (2000) described a homozygous arg382-to-his (R382H) substitution in the prothrombin gene of an Iranian girl with dysprothrombinemia (see 613679). The only symptoms were sporadic ecchymosis and 1 episode of buttock hematoma following a major trauma. A substitution in this residue had been identified in the compound heterozygous dysprothrombins Quick I (R382C; 176930.0004) and Corpus Christi.

Akhavan et al. (2002) investigated the functional properties of the R382H mutant protein. Their experiments showed that the R382H substitution drastically affected both the procoagulant and the anticoagulant functions of thrombin as well as its inhibition by heparin cofactor II (142360). The mild hemorrhagic phenotype may be explained by abnormalities that ultimately counterbalance each other.

#	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: Nov 3, 2024

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