SERPINC1, 1-BP DEL, A AND Antithrombin III deficiency

Clinical significance:Pathogenic (Last evaluated: Nov 29, 2012)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019640.26

Allele description [Variation Report for SERPINC1, 1-BP DEL, A]

SERPINC1, 1-BP DEL, A

Gene:
SERPINC1:serpin peptidase inhibitor, clade C (antithrombin), member 1 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
1q23-q25
Preferred name:
SERPINC1, 1-BP DEL, A
HGVS:
    Nucleotide change:
    1-BP DEL, A
    Links:
    OMIM: 107300.0028

    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 StatusClinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000039938OMIMPathogenic
    (Nov 29, 2012)
    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

    Recurrent deletion in the human antithrombin III gene.

    Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN.

    Blood. 1991 Aug 15;78(4):1027-32.

    PubMed [citation]
    PMID:
    1868237

    Details of each submission

    From OMIM, SCV000039938.1

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

    Description

    Grundy et al. (1991) identified 2 patients, each from unrelated families segregating AT-III deficiency and a history of thrombosis (613118), who were heterozygous for different frameshift mutations involving the same GAG codon (glu245) in exon 4 of the AT3 gene. One patient had a heterozygous deletion of the A nucleotide, whereas the second had a heterozygous deletion of an A and a G (107300.0029). Grundy et al. (1991) pointed out that the deletion-prone glu245 codon is located within a GAGAG motif that is effectively a short overlapping direct repeat. In addition, a short inverted repeat flanked the site of deletion. They pointed to similar deletion hotspots in the F8, HPRT, HBA2, and HBB genes and pointed out common characteristics of these hotspots.

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

    Last Updated: Apr 23, 2015