NM_001113378.2(FANCI):c.3147del (p.Leu1049fs) AND Fanconi anemia complementation group I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 31, 2023
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:: RCV003461516.1

Allele description [Variation Report for NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)]

NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)

HGVS:

NC_000015.10:g.89305203del
NG_008218.2:g.34593del
NG_011736.1:g.66241del
NG_160687.1:g.146del
NM_001113378.2:c.3147delMANE SELECT
NM_001376910.1:c.2868del
NM_001376911.1:c.3147del
NM_018193.3:c.2967del
NP_001106849.1:p.Leu1049Phefs
NP_001106849.1:p.Leu1049fs
NP_001363839.1:p.Leu956fs
NP_001363840.1:p.Leu1049fs
NP_060663.2:p.Leu989fs
LRG_500t1:c.3147del
LRG_500:g.66241del
LRG_500p1:p.Leu1049Phefs
LRG_765:g.34593del
NC_000015.9:g.89848434del
NM_001113378.1:c.3147delG

Protein change:

L1049fs

Molecular consequence:

NM_001113378.2:c.3147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376910.1:c.2868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376911.1:c.3147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018193.3:c.2967del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004197178	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 31, 2023)	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

SCV004197178

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 31, 2023)

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, SCV004197178.1

#	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 5, 2025

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