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NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2
First in ClinVar:
Jun 28, 2020
Most recent Submission:
Jun 27, 2020
Last evaluated:
Feb 7, 2011
Accession:
VCV000929712.2
Variation ID:
929712
Description:
single nucleotide variant
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NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)

Allele ID
918031
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89247649 (GRCh38) GRCh38 UCSC
15: 89790880 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001113378.2:c.2T>C MANE Select NP_001106849.1:p.Met1Thr missense
NM_001376910.1:c.-273T>C 5 prime UTR
NM_001376911.1:c.2T>C NP_001363840.1:p.Met1Thr missense
... more HGVS
Protein change
M1T
Other names
2T-C
Canonical SPDI
NC_000015.10:89247648:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
LOVD 3: FANCI_000001
OMIM: 611360.0001
dbSNP: rs2052048258
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Feb 7, 2011 RCV001194980.2
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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
(Jun 01, 2007)
no assertion criteria provided
Method: literature only
FANCONI ANEMIA, COMPLEMENTATION GROUP I
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000021172.4
First in ClinVar: Apr 04, 2013
Last updated: Oct 09, 2016
Publications:
PubMed (2)
PubMed: 1745277317460694
Comment on evidence:
In a Turkish female with Fanconi anemia complementation group I (FANCI; 609053), Dorsman et al. (2007) identified a homozygous T-to-C transition at nucleotide 2 of … (more)
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: SCV001364854.1
First in ClinVar: Jun 27, 2020
Last updated: Jun 27, 2020
Publications:
PubMed (2)
PubMed: 1745277317460694
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
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Sims AE Nature structural & molecular biology 2007 PMID: 17460694
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 rs2052048258...

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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