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

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2017)

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:
RCV000656370.1

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:
Neuroblastoma (NB)
Identifiers:
MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000777900Department of Pathology and Genetics,University of Gothenburgno assertion criteria providedUncertain significance
(Jan 1, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Department of Pathology and Genetics,University of Gothenburg, SCV000777900.1

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

Last Updated: Nov 27, 2021

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