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NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000257489.5
Variation ID:
257489
Description:
single nucleotide variant
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NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=)

Allele ID
255389
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89315371 (GRCh38) GRCh38 UCSC
15: 89858602 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_500t1:c.3906T>C LRG_500p1:p.Gly1302=
LRG_500:g.76409T>C
LRG_765:g.24425A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:89315370:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.41234 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.41226
1000 Genomes Project 0.41234
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.40960
Trans-Omics for Precision Medicine (TOPMed) 0.41010
The Genome Aggregation Database (gnomAD), exomes 0.40955
The Genome Aggregation Database (gnomAD) 0.43722
Links
ClinGen: CA7723952
dbSNP: rs1138465
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Aug 8, 2016 RCV000251297.1
Benign 2 criteria provided, multiple submitters, no conflicts Dec 1, 2020 RCV000348737.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000329693.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001117649.1
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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
631 740
POLG - - GRCh38
GRCh37
1309 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306649.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Fanconi Anemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394231.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
POLG-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483522.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603585.1
Submitted: (Jun 30, 2017)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group I
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001275858.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV001000392.3
Submitted: (Jan 07, 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 rs1138465...

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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 Sep 06, 2021