NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs) AND Fanconi anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 17, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000814808.4

Allele description [Variation Report for NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)]

NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)

HGVS:

NC_000015.10:g.89312921_89312924dup
NG_008218.2:g.26872_26875dup
NG_011736.1:g.73959_73962dup
NM_001113378.2:c.3669_3672dupMANE SELECT
NM_001376910.1:c.3390_3393dup
NM_001376911.1:c.3669_3672dup
NM_018193.3:c.3489_3492dup
NP_001106849.1:p.Tyr1225fs
NP_001363839.1:p.Tyr1132fs
NP_001363840.1:p.Tyr1225fs
NP_060663.2:p.Tyr1165fs
LRG_500:g.73959_73962dup
LRG_765:g.26872_26875dup
NC_000015.9:g.89856151_89856152insGAAC
NC_000015.9:g.89856152_89856155dup
NM_001113378.1:c.3669_3672dupGAAC

Protein change:

Y1132fs

Links:

dbSNP: rs1596336945

NCBI 1000 Genomes Browser:

rs1596336945

Molecular consequence:

NM_001113378.2:c.3669_3672dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376910.1:c.3390_3393dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376911.1:c.3669_3672dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018193.3:c.3489_3492dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fanconi anemia (FA)
Synonyms:: Fanconi pancytopenia; Fanconi's anemia
Identifiers:: MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

Recent activity

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rho GTPase-activating protein 5 [Macaca mulatta]
rho GTPase-activating protein 5 [Macaca mulatta]
gi|310832404|ref|NP_001185592.1|

Protein
Homo sapiens NOP2/Sun RNA methyltransferase 6 (NSUN6), transcript variant 3, mRN...
Homo sapiens NOP2/Sun RNA methyltransferase 6 (NSUN6), transcript variant 3, mRNA
gi|1675033629|ref|NM_001351116.2|

Nucleotide
Homo sapiens ankyrin repeat and EF-hand domain containing 1 (ANKEF1), transcript...
Homo sapiens ankyrin repeat and EF-hand domain containing 1 (ANKEF1), transcript variant 1, mRNA
gi|744066805|ref|NM_022096.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000955235	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 17, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17452773, 17460694, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000955235

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 17, 2018)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Invitae, SCV000955235.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Tyr1225Glufs*29) in the FANCI gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). This variant has not been reported in the literature in individuals with FANCI-related disease.

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

Last Updated: Feb 20, 2024

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