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NM_020964.2(EPG5):c.[2T>C;5792delT] AND Vici syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 11, 2016
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:
RCV000496982.4

Alleles description [Variation Report for NM_020964.2(EPG5):c.[2T>C;5792delT]]

NM_020964.3(EPG5):c.5792del (p.Leu1931fs)

Gene:
EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.3
Genomic location:
Preferred name:
NM_020964.3(EPG5):c.5792del (p.Leu1931fs)
HGVS:
  • NC_000018.10:g.45879091del
  • NG_042838.1:g.93250del
  • NM_020964.3:c.5792delMANE SELECT
  • NP_066015.2:p.Leu1931fs
  • LRG_1234t1:c.5792del
  • LRG_1234:g.93250del
  • LRG_1234p1:p.Leu1931fs
  • NC_000018.9:g.43459056del
  • NM_020964.2:c.5792delT
Protein change:
L1931fs
Links:
dbSNP: rs1135402727
NCBI 1000 Genomes Browser:
rs1135402727
Molecular consequence:
  • NM_020964.3:c.5792del - frameshift variant - [Sequence Ontology: SO:0001589]

NM_020964.3(EPG5):c.2T>C (p.Met1Thr)

Gene:
EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_020964.3(EPG5):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000018.10:g.45967238A>G
  • NG_042838.1:g.5102T>C
  • NM_020964.3:c.2T>CMANE SELECT
  • NP_066015.2:p.Met1Thr
  • LRG_1234t1:c.2T>C
  • LRG_1234:g.5102T>C
  • LRG_1234p1:p.Met1Thr
  • NC_000018.9:g.43547204A>G
  • NM_020964.2:c.2T>C
Protein change:
M1T
Links:
dbSNP: rs1135402728
NCBI 1000 Genomes Browser:
rs1135402728
Molecular consequence:
  • NM_020964.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_020964.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000328413Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 11, 2016) 		germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Japanesegermlineyes2not providednot providednot providednot providedresearch

Citations

PubMed

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M.

Am J Med Genet. 1988 Jan;29(1):1-8.

PubMed [citation]
PMID:
3344762

Immunodeficiency in Vici syndrome: a heterogeneous phenotype.

Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, Randisi F, Bertini E, Dionisi-Vici C.

Am J Med Genet A. 2012 Feb;158A(2):434-9. doi: 10.1002/ajmg.a.34244. Epub 2011 Sep 30.

PubMed [citation]
PMID:
21965116
See all PubMed Citations (3)

Details of each submission

From Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences, SCV000328413.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Japanese2not providednot providedresearch PubMed (3)

Description

Patient, a 7 year-old girl, showed severe developmental delay, hypotonia, seizure, hypopigmentation, and high-arched palate. Her last head circumference was 48.0 (-2.6SD). This mutaion was confirmed compound heterozygosity. Her sister also had the same mutaion.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jan 26, 2024