NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) AND Fanconi anemia complementation group I

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 10, 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:: RCV002479454.2

Allele description [Variation Report for NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)]

NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)

HGVS:

NC_000015.10:g.89293882CT[2]
NG_011736.1:g.54920CT[2]
NM_001113378.2:c.2345_2346delMANE SELECT
NM_001376910.1:c.2066_2067del
NM_001376911.1:c.2345_2346del
NM_018193.3:c.2345_2346del
NP_001106849.1:p.Leu781_Ser782insTer
NP_001363839.1:p.Leu688_Ser689insTer
NP_001363840.1:p.Leu781_Ser782insTer
NP_060663.2:p.Leu781_Ser782insTer
LRG_500t1:c.2345_2346del
LRG_500:g.54920CT[2]
NC_000015.9:g.89837113CT[2]
NC_000015.9:g.89837113_89837114del
NM_001113378.1:c.2345_2346del

Links:

dbSNP: rs758062617

NCBI 1000 Genomes Browser:

rs758062617

Molecular consequence:

NM_001113378.2:c.2345_2346del - nonsense - [Sequence Ontology: SO:0001587]
NM_001376910.1:c.2066_2067del - nonsense - [Sequence Ontology: SO:0001587]
NM_001376911.1:c.2345_2346del - nonsense - [Sequence Ontology: SO:0001587]
NM_018193.3:c.2345_2346del - 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
SCV002781061	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 9, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004197157	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 10, 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

SCV002781061

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 9, 2021)

unknown

clinical testing

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

SCV004197157

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 10, 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 Fulgent Genetics, Fulgent Genetics, SCV002781061.1

#	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

From Baylor Genetics, SCV004197157.1

#	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: Sep 29, 2024

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