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NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) AND Fanconi anemia complementation group I

Germline classification:
Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:
Oct 5, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001194987.4

Allele description [Variation Report for NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)]

NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)

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.3895C>T (p.Arg1299Ter)
HGVS:
  • NC_000015.10:g.89315360C>T
  • NG_008218.2:g.24436G>A
  • NG_011736.1:g.76398C>T
  • NM_001113378.2:c.3895C>TMANE SELECT
  • NM_001376910.1:c.3616C>T
  • NM_001376911.1:c.3895C>T
  • NM_018193.3:c.3715C>T
  • NP_001106849.1:p.Arg1299Ter
  • NP_001363839.1:p.Arg1206Ter
  • NP_001363840.1:p.Arg1299Ter
  • NP_060663.2:p.Arg1239Ter
  • LRG_500t1:c.3895C>T
  • LRG_500:g.76398C>T
  • LRG_765:g.24436G>A
  • NC_000015.9:g.89858591C>T
  • NM_001113378.1:c.3895C>T
Protein change:
R1206*
Links:
dbSNP: rs551305056
NCBI 1000 Genomes Browser:
rs551305056
Molecular consequence:
  • NM_001113378.2:c.3895C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376910.1:c.3616C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376911.1:c.3895C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018193.3:c.3715C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364863Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Feb 7, 2011)
germlinecuration

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

SCV002801773Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 2, 2022)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004197159Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 5, 2023)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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
See all PubMed Citations (3)

Details of each submission

From Leiden Open Variation Database, SCV001364863.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002801773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004197159.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024