NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) AND Fanconi anemia complementation group I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 13, 2024
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:: RCV004570949.1

Allele description [Variation Report for NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)]

NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)

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.3622dup (p.Leu1208fs)

HGVS:

NC_000015.10:g.89307643dup
NG_008218.2:g.32158dup
NG_011736.1:g.68681dup
NM_001113378.2:c.3622dupMANE SELECT
NM_001376910.1:c.3343dup
NM_001376911.1:c.3622dup
NM_018193.3:c.3442dup
NP_001106849.1:p.Leu1208fs
NP_001363839.1:p.Leu1115fs
NP_001363840.1:p.Leu1208fs
NP_060663.2:p.Leu1148fs
LRG_500:g.68681dup
LRG_765:g.32158dup
NC_000015.9:g.89850868_89850869insC
NC_000015.9:g.89850874dup

Protein change:

L1115fs

Links:

dbSNP: rs1567175626

NCBI 1000 Genomes Browser:

rs1567175626

Molecular consequence:

NM_001113378.2:c.3622dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376910.1:c.3343dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376911.1:c.3622dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018193.3:c.3442dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005057715	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 13, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005057715

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 13, 2024)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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 Baylor Genetics, SCV005057715.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 22, 2025

ClinVar

Relating variation to medicine