NM_000135.2(FANCA):c.1007_3066del AND Fanconi anemia, complementation group A

Clinical significance:Pathogenic (Last evaluated: May 8, 2001)

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:
RCV000003614.3

Allele description [Variation Report for NM_000135.2(FANCA):c.1007_3066del]

NM_000135.2(FANCA):c.1007_3066del

Gene:
FANCA:Fanconi anemia complementation group A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.2(FANCA):c.1007_3066del
HGVS:
  • NC_000016.10:g.(89751224_89751251)_(89795352_89795381)del
  • NG_011706.1:g.(26277_26306)_(70407_70434)del
  • LRG_495t1:c.1007_3066del
  • LRG_495:g.(26277_26306)_(70407_70434)del
  • NC_000016.9:g.(89817632_89817659)_(89861760_89861789)del
  • NM_000135.2:c.1007_3066del
Note:
Deletion of exons 12-31 from FANCA is caused by genomic deletion originating in the flanking intronic regions.
Nucleotide change:
EX12-31DEL
Links:
dbVar: nssv7487160; dbVar: nsv1197597; OMIM: 607139.0007

Condition(s)

Name:
Fanconi anemia, complementation group A (FANCA)
Synonyms:
Fanconi Anemia
Identifiers:
MedGen: C3469521; Orphanet: 84; OMIM: 227650
Age of onset:
Childhood
Prevalence:
1-9 / 100 000 84

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023772OMIMno assertion criteria providedPathogenic
(May 8, 2001)
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

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.

Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP, Havenga C, Gluckman E, Joenje H, de Ravel T, Jansen S, Mathew CG.

Proc Natl Acad Sci U S A. 2001 May 8;98(10):5734-9.

PubMed [citation]
PMID:
11344308
PMCID:
PMC33282

Details of each submission

From OMIM, SCV000023772.2

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

Description

Tipping et al. (2001) identified an intragenic deletion of exons 12-31 of the FANCA gene as accounting for 60% of Fanconi anemia chromosomes in 46 unrelated Afrikaner FA (see FANCA, 227650) patients. Two other mutations, also deletions, accounted for an additional 20%. By genealogic investigation of 12 Afrikaner families with FA, they traced the major deletion to a French Huguenot couple who arrived at the Cape in 1688. The same mutation and haplotype was found in an FANCA patient from the western Ruhr region of Germany. It was thus possible that the major founder mutation was introduced into South Africa from that region. Rhinelanders were a substantial component of the crew of the ships of the Dutch East India Company, and about one-third of the original European population of the Cape were of German origin.

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

Last Updated: May 7, 2017