FANCA, 113-BP DEL, NT938 AND Fanconi anemia, complementation group A

Clinical significance:Pathogenic (Last evaluated: Apr 4, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003611.1

Allele description [Variation Report for FANCA, 113-BP DEL, NT938]

Gene:
FANCA:Fanconi anemia, complementation group A [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
16q24.3
HGVS:
    Nucleotide change:
    113-BP DEL, NT938
    Links:
    OMIM: 607139.0004

    Condition(s)

    Name:
    Fanconi anemia, complementation group A (FANCA)
    Synonyms:
    Fanconi Anemia
    Identifiers:
    GeneReviews: NBK1401; MedGen: C3469521; OMIM: 227650; Orphanet: 84
    Age of onset:
    Childhood
    Prevalence:
    1-9 / 1 000 000 84

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000023769OMIMPathogenic
    (Apr 4, 2013)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Positional cloning of the Fanconi anaemia group A gene.

    Fanconi anaemia/Breast cancer consortium.

    Nat Genet. 1996 Nov;14(3):324-8.

    PubMed [citation]
    PMID:
    8896564

    Details of each submission

    From OMIM, SCV000023769.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    One FAA (227650) patient of northern European origin was found by the Fanconi Anaemia/Breast Cancer Consortium (1996) to be a compound heterozygote for a 113-bp deletion spanning nucleotides 938 to 1050 and a 156-bp deletion (607139.0003). The 113-bp deletion removes a single exon from the coding sequence and creates a premature stop codon 2 residues downstream.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jun 27, 2014

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