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NM_001113378.2(FANCI):c.3006+3A>G

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 28, 2020)
Last evaluated:
Feb 7, 2011
Accession:
VCV000929729.1
Variation ID:
929729
Description:
single nucleotide variant
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NM_001113378.2(FANCI):c.3006+3A>G

Allele ID
918042
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89301445 (GRCh38) GRCh38 UCSC
15: 89844676 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001113378.2:c.3006+3A>G MANE Select
NM_001376910.1:c.2727+3A>G
NM_001376911.1:c.3006+3A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:89301444:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
dbSNP: rs1294973649
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 7, 2011 RCV001195000.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCI - - GRCh38
GRCh37
1052 1197

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Feb 07, 2011)
no assertion criteria provided
Method: curation
Fanconi anemia complementation group I
Affected status: yes
Allele origin: germline
Leiden Open Variation Database
Accession: SCV001364878.1
Submitted: (Feb 28, 2020)
Publications:
PubMed (1)
PubMed: 17452773
Comment:
Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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
Identification of the Fanconi anemia complementation group I gene, FANCI. Dorsman JC Cellular oncology : the official journal of the International Society for Cellular Oncology 2007 PMID: 17452773

Text-mined citations for rs1294973649...

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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 Apr 24, 2022