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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579324OMIM
no assertion criteria provided
Pathogenic
(Jun 2, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2022