NM_000135.4(FANCA):c.4261-2A>C AND Fanconi anemia, complementation group A

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000656368.1

Allele description [Variation Report for NM_000135.4(FANCA):c.4261-2A>C]

NM_000135.4(FANCA):c.4261-2A>C

Genes:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.4261-2A>C
HGVS:
  • NC_000016.10:g.89738710T>G
  • NG_011706.1:g.82948A>C
  • NM_000135.4:c.4261-2A>CMANE SELECT
  • NM_001113525.2:c.*464T>GMANE SELECT
  • NM_001286167.3:c.4265-2A>C
  • NM_152287.4:c.*464T>G
  • LRG_495t1:c.4261-2A>C
  • LRG_495:g.82948A>C
  • NC_000016.9:g.89805118T>G
  • NM_000135.2:c.4261-2A>C
  • NM_000135.3:c.4261-2A>C
  • NR_110122.2:n.2464T>G
  • NR_110126.2:n.2347T>G
  • NR_110128.2:n.2287T>G
  • NR_110129.2:n.2381T>G
Links:
dbSNP: rs915983602
NCBI 1000 Genomes Browser:
rs915983602
Molecular consequence:
  • NM_001113525.2:c.*464T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*464T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_110122.2:n.2464T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.2347T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.2287T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.2381T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000135.4:c.4261-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286167.3:c.4265-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Fanconi anemia, complementation group A (FANCA)
Synonyms:
Fanconi anemia, group A
Identifiers:
MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000777898Department of Pathology and Genetics,University of Gothenburgno assertion criteria providedLikely pathogenic
(Jan 1, 2017)
unknownclinical testing

SCV000793846Counsylcriteria provided, single submitter
Pathogenic
(Sep 1, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, et al.

Haematologica. 2014 Jun;99(6):1022-31. doi: 10.3324/haematol.2014.104224. Epub 2014 Feb 28. Erratum in: Haematologica. 2014 Sep;99(9):1532.

PubMed [citation]
PMID:
24584348
PMCID:
PMC4040906

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

Esmail Nia G, Fadaee M, Royer R, Najmabadi H, Akbari MR.

Arch Iran Med. 2016 Apr;19(4):236-40. doi: 0161904/AIM.003.

PubMed [citation]
PMID:
27041517
See all PubMed Citations (3)

Details of each submission

From Department of Pathology and Genetics,University of Gothenburg, SCV000777898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000793846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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