NM_021922.3(FANCE):c.614_615del (p.Glu205fs) AND Fanconi anemia complementation group E

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 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:: RCV003619627.2

Allele description [Variation Report for NM_021922.3(FANCE):c.614_615del (p.Glu205fs)]

NM_021922.3(FANCE):c.614_615del (p.Glu205fs)

Gene:

FANCE:FA complementation group E [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_021922.3(FANCE):c.614_615del (p.Glu205fs)

HGVS:

NC_000006.12:g.35456110AG[1]
NG_011708.1:g.8750AG[1]
NM_001410876.1:c.614_615del
NM_021922.3:c.614_615delMANE SELECT
NP_001397805.1:p.Glu205fs
NP_068741.1:p.Glu205Glyfs
NP_068741.1:p.Glu205fs
LRG_498t1:c.612_613AG[1]
LRG_498:g.8750AG[1]
LRG_498p1:p.Glu205Glyfs
NC_000006.11:g.35423887AG[1]
NC_000006.11:g.35423887_35423888del
NM_021922.2:c.612_613AG[1]

Protein change:

E205fs

Molecular consequence:

NM_001410876.1:c.614_615del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021922.3:c.614_615del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fanconi anemia complementation group E (FANCE)
Identifiers:: MONDO: MONDO:0010953; MedGen: C3160739; Orphanet: 84; OMIM: 600901

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004522799	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 23, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11001585, 17924555, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004522799

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 23, 2023)

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

Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H.

Am J Hum Genet. 2000 Nov;67(5):1306-8. Epub 2000 Sep 19.

PubMed [citation]

PMID:: 11001585
PMCID:: PMC1288571

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H.

Hum Mutat. 2008 Jan;29(1):159-66.

PubMed [citation]

PMID:: 17924555

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004522799.1

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCE-related conditions. This sequence change creates a premature translational stop signal (p.Glu205Glyfs*7) in the FANCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). This variant is not present in population databases (gnomAD no frequency).

#	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: Sep 29, 2024

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