NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) AND Fanconi anemia complementation group I

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 7, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001194980.2

Allele description [Variation Report for NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)]

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

Gene:

FANCI:FA complementation group I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

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

HGVS:

NC_000015.10:g.89247649T>C
NG_011736.1:g.8687T>C
NM_001113378.2:c.2T>CMANE SELECT
NM_001376910.1:c.-273T>C
NM_001376911.1:c.2T>C
NM_018193.3:c.2T>C
NP_001106849.1:p.Met1Thr
NP_001363840.1:p.Met1Thr
NP_060663.2:p.Met1Thr
LRG_500t1:c.2T>C
LRG_500:g.8687T>C
NC_000015.9:g.89790880T>C
NM_001113378.1:c.2T>C

Nucleotide change:

2T-C

Protein change:

M1T

Links:

LOVD 3: FANCI_000001; OMIM: 611360.0001; dbSNP: rs2052048258

NCBI 1000 Genomes Browser:

rs2052048258

Molecular consequence:

NM_001376910.1:c.-273T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001113378.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001376911.1:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_018193.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001113378.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001376911.1:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018193.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Fanconi anemia complementation group I (FANCI)
Identifiers:: MONDO: MONDO:0012186; MedGen: C1836861; Orphanet: 84; OMIM: 609053

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021172	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 17452773, 17460694
SCV001364854	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Feb 7, 2011)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 17452773, 17460694

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021172

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2007)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001364854

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Feb 7, 2011)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of the Fanconi anemia complementation group I gene, FANCI.

Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H.

Cell Oncol. 2007;29(3):211-8.

PubMed [citation]

PMID:: 17452773
PMCID:: PMC4618213

FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

Sims AE, Spiteri E, Sims RJ 3rd, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT.

Nat Struct Mol Biol. 2007 Jun;14(6):564-7. Epub 2007 Apr 25.

PubMed [citation]

PMID:: 17460694

Details of each submission

From OMIM, SCV000021172.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

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 the FANCI cDNA, resulting in removal of the translation initiation site. The patient had consanguineous parents and died at age 6.5 years. Sims et al. (2007) identified the same mutation and noted that it produces a new start codon at met94.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Leiden Open Variation Database, SCV001364854.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 3, 2023

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