SERPINC1, 3-BP DEL AND Antithrombin III deficiency

Clinical significance:Pathogenic (Last evaluated: Apr 18, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019661.23

Allele description [Variation Report for SERPINC1, 3-BP DEL]

SERPINC1, 3-BP DEL

Gene:
SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q23-q25
Preferred name:
SERPINC1, 3-BP DEL
HGVS:
    Nucleotide change:
    3-BP DEL
    Links:
    OMIM: 107300.0049

    Condition(s)

    Name:
    Antithrombin III deficiency (AT3D)
    Synonyms:
    Thrombophilia due to antithrombin III deficiency
    Identifiers:
    MedGen: C0272375; OMIM: 613118

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000039959OMIMno assertion criteria providedPathogenic
    (Apr 18, 2003)
    germlineliterature only

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

    Summary from all submissions

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

    Citations

    PubMed

    Deletion of P1 arginine in a novel antithrombin variant (antithrombin London) abolishes inhibitory activity but enhances heparin affinity and is associated with early onset thrombosis.

    Raja SM, Chhablani N, Swanson R, Thompson E, Laffan M, Lane DA, Olson ST.

    J Biol Chem. 2003 Apr 18;278(16):13688-95. Epub 2003 Feb 18.

    PubMed [citation]
    PMID:
    12591924

    Details of each submission

    From OMIM, SCV000039959.1

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

    Description

    In a proband with early-onset thrombosis and antithrombin III deficiency (613118), Raja et al. (2003) identified a heterozygous 3-bp deletion corresponding to the codon for the P1 arginine-393 residue (ARG393DEL). The mutation abolished inhibitor activity toward thrombin and factor Xa, but bound to either full-length or pentasaccharide heparins with substantially higher affinity than that of the normal inhibitor. The authors suggested that the unusually severe thrombosis associated with this mutation may be explained by the ability of antithrombin London to bind endogenous heparan sulfate or heparan molecules and to thereby block activation of the normal inhibitor.

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

    Last Updated: Apr 7, 2017