NM_032898.4(CEP19):c.244C>T (p.Arg82Ter) AND Morbid obesity and spermatogenic failure

Clinical significance:Pathogenic (Last evaluated: Dec 5, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000106311.2

Allele description [Variation Report for NM_032898.4(CEP19):c.244C>T (p.Arg82Ter)]

NM_032898.4(CEP19):c.244C>T (p.Arg82Ter)

Gene:
CEP19:centrosomal protein 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_032898.4(CEP19):c.244C>T (p.Arg82Ter)
HGVS:
  • NC_000003.12:g.196707811G>A
  • NG_034109.1:g.9484C>T
  • NM_032898.4:c.244C>T
  • NP_116287.2:p.Arg82Ter
  • NC_000003.11:g.196434682G>A
  • NM_032898.3:c.244C>T
Protein change:
R82*; ARG82TER
Links:
OMIM: 615586.0001; dbSNP: 587777230
NCBI 1000 Genomes Browser:
rs587777230
Molecular consequence:
  • NM_032898.4:c.244C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Morbid obesity and spermatogenic failure (MOSPGF)
Identifiers:
MedGen: C3810324; Orphanet: 397615; OMIM: 615703
Age of onset:
Childhood
Prevalence:
<1 / 1 000 000 397615

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000143770OMIMno assertion criteria providedPathogenic
(Dec 5, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, et al.

Am J Hum Genet. 2013 Dec 5;93(6):1061-71. doi: 10.1016/j.ajhg.2013.10.025. Epub 2013 Nov 21.

PubMed [citation]
PMID:
24268657
PMCID:
PMC3852924

Details of each submission

From OMIM, SCV000143770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a large multigenerational Arab family with morbid obesity and spermatogenic failure (MOSPGF; 615703), Shalata et al. (2013) identified homozygosity for a c.244C-T transition in exon 2 of the CEP19 gene, resulting in an arg82-to-ter (R82X) substitution. The mutation segregated with disease in the family and was not found in 620 controls, including 200 ethnically matched individuals, or in the dbSNP database (build 137). Transfection studies indicated that the truncated CEP19 was unstable and degraded through the proteasome pathway.

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

Last Updated: May 7, 2017