NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) AND Fanconi anemia complementation group I

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Mar 2, 2024
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:: RCV000502163.15

Allele description [Variation Report for NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)]

NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)

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.1461T>A (p.Tyr487Ter)

HGVS:

NC_000015.10:g.89281249T>A
NG_011736.1:g.42287T>A
NM_001113378.2:c.1461T>AMANE SELECT
NM_001376910.1:c.1182T>A
NM_001376911.1:c.1461T>A
NM_018193.3:c.1461T>A
NP_001106849.1:p.Tyr487Ter
NP_001106849.1:p.Tyr487Ter
NP_001363839.1:p.Tyr394Ter
NP_001363840.1:p.Tyr487Ter
NP_060663.2:p.Tyr487Ter
LRG_500t1:c.1461T>A
LRG_500:g.42287T>A
LRG_500p1:p.Tyr487Ter
NC_000015.9:g.89824480T>A
NM_001113378.1:c.1461T>A

Protein change:

Y394*

Links:

dbSNP: rs769248873

NCBI 1000 Genomes Browser:

rs769248873

Molecular consequence:

NM_001113378.2:c.1461T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001376910.1:c.1182T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001376911.1:c.1461T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_018193.3:c.1461T>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000594727	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 16, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001364870	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Jan 20, 2012)	germline	curation
SCV003799098	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004197169	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 2, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

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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	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000594727.1

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

#	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

From Leiden Open Variation Database, SCV001364870.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

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

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV003799098.2

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

Description

PVS1, PM2, PM3

#	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

From Baylor Genetics, SCV004197169.2

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

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

Last Updated: May 25, 2025

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