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NM_001018115.3(FANCD2):c.4281+270A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 8, 2021)
Last evaluated:
Apr 3, 2019
Accession:
VCV000342385.5
Variation ID:
342385
Description:
single nucleotide variant
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NM_001018115.3(FANCD2):c.4281+270A>G

Allele ID
288510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10099085 (GRCh38) GRCh38 UCSC
3: 10140769 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_306:g.77657A>G
LRG_306t2:c.*135A>G
NC_000003.11:g.10140769A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:10099084:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.03135 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.03356
Trans-Omics for Precision Medicine (TOPMed) 0.03412
The Genome Aggregation Database (gnomAD) 0.03108
1000 Genomes Project 0.03135
Trans-Omics for Precision Medicine (TOPMed) 0.03572
Links
ClinGen: CA10614717
dbSNP: rs17032386
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000385920.2
Benign 1 criteria provided, single submitter Apr 3, 2019 RCV001613127.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCD2 - - GRCh38
GRCh37
45 726
FANCD2OS - - - GRCh38
GRCh37
- 234

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group D2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000439613.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Apr 03, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001840636.1
Submitted: (Sep 08, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs17032386...

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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