NM_020964.3(EPG5):c.2353dup (p.Ala785fs) AND Vici syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 2, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000490632.2

Allele description [Variation Report for NM_020964.3(EPG5):c.2353dup (p.Ala785fs)]

NM_020964.3(EPG5):c.2353dup (p.Ala785fs)

Gene:

EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q21.1

Genomic location:

Preferred name:

NM_020964.3(EPG5):c.2353dup (p.Ala785fs)

HGVS:

NC_000018.10:g.45930736dup
NG_042838.1:g.41605dup
NM_020964.3:c.2353dupMANE SELECT
NP_066015.2:p.Ala785fs
LRG_1234t1:c.2353dup
LRG_1234:g.41605dup
LRG_1234p1:p.Ala785fs
NC_000018.9:g.43510702dup
NM_020964.2:c.2352_2353insG

Protein change:

A785fs

Links:

OMIM: 615068.0008; dbSNP: rs1085308062

NCBI 1000 Genomes Browser:

rs1085308062

Molecular consequence:

NM_020964.3:c.2353dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Vici syndrome (VICIS)
Synonyms:: Absent corpus callosum cataract immunodeficiency; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
Identifiers:: MONDO: MONDO:0009452; MedGen: C1855772; Orphanet: 1493; OMIM: 242840

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579324	OMIM	no assertion criteria provided	Pathogenic (Jun 2, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579324

OMIM

no assertion criteria provided

Pathogenic
(Jun 2, 2017)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Maillard C, Cavallin M, Piquand K, Philbert M, Bault JP, Millischer AE, Moshous D, Rio M, Gitiaux C, Boddaert N, Masson C, Thomas S, Bahi-Buisson N.

Am J Med Genet A. 2017 Mar;173(3):706-711. doi: 10.1002/ajmg.a.38061. Epub 2017 Feb 7.

PubMed [citation]

PMID:: 28168853

Details of each submission

From OMIM, SCV000579324.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 1-bp insertion (c.2352_2353insG, NM_020964.2) in the EPG5 gene, resulting in a frameshift and a premature stop codon (Ala785GlyfsTer20), that was found in a girl with Vici syndrome (VICIS; 242840) by Maillard et al. (2017), see 615068.0007.

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

Last Updated: Sep 24, 2022

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