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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jul 10, 2018)
Last evaluated:
Sep 1, 2017
Accession:
VCV000545114.1
Variation ID:
545114
Description:
single nucleotide variant
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NM_000135.4(FANCA):c.4261-2A>C

Allele ID
535378
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89738710 (GRCh38) GRCh38 UCSC
16: 89805118 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_495:g.82948A>C
LRG_495t1:c.4261-2A>C
NC_000016.10:g.89738710T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:89738709:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs915983602
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Sep 1, 2017 RCV000656368.1
Uncertain significance 1 no assertion criteria provided Jan 1, 2017 RCV000656370.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCA - - GRCh38
GRCh37
2154 2645
ZNF276 - - GRCh38
GRCh37
- 427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Counsyl
Accession: SCV000793846.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Likely pathogenic
(Jan 01, 2017)
no assertion criteria provided
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Department of Pathology and Genetics,University of Gothenburg
Accession: SCV000777898.1
Submitted: (May 16, 2018)
Evidence details
Uncertain significance
(Jan 01, 2017)
no assertion criteria provided
Method: clinical testing
Neuroblastoma
Allele origin: unknown
Department of Pathology and Genetics,University of Gothenburg
Accession: SCV000777900.1
Submitted: (May 16, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Profiling Fanconi Anemia Gene Mutations among Iranian Patients. Esmail Nia G Archives of Iranian medicine 2016 PMID: 27041517
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 Haematologica 2014 PMID: 24584348
Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs. Tamary H European journal of haematology 2004 PMID: 15059067

Text-mined citations for rs915983602...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021