U.S. flag

An official website of the United States government

NM_015895.5(GMNN):c.16A>T (p.Lys6Ter) AND Meier-Gorlin syndrome 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2015
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:
RCV000208589.2

Allele description [Variation Report for NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)]

NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)

Gene:
GMNN:geminin DNA replication inhibitor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.3
Genomic location:
Preferred name:
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)
HGVS:
  • NC_000006.12:g.24777262A>T
  • NG_030440.1:g.7332A>T
  • NM_001251989.2:c.16A>T
  • NM_001251990.2:c.16A>T
  • NM_001251991.1:c.16A>T
  • NM_015895.5:c.16A>TMANE SELECT
  • NP_001238918.1:p.Lys6Ter
  • NP_001238919.1:p.Lys6Ter
  • NP_001238920.1:p.Lys6Ter
  • NP_056979.1:p.Lys6Ter
  • NC_000006.11:g.24777490A>T
  • NM_015895.4:c.16A>T
Protein change:
K6*; LYS6TER
Links:
OMIM: 602842.0001; dbSNP: rs864309486
NCBI 1000 Genomes Browser:
rs864309486
Molecular consequence:
  • NM_001251989.2:c.16A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001251990.2:c.16A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001251991.1:c.16A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015895.5:c.16A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Meier-Gorlin syndrome 6
Identifiers:
MONDO: MONDO:0014794; MedGen: C4225188; Orphanet: 2554; OMIM: 616835

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264359OMIM
no assertion criteria provided
Pathogenic
(Dec 3, 2015) 		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

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, et al.

Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

PubMed [citation]
PMID:
26637980
PMCID:
PMC4678788

Details of each submission

From OMIM, SCV000264359.2

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

Description

By whole-exome sequencing in a patient with Meier-Gorlin syndrome (MGORS6; 616835) in whom no mutations were found in previously identified MGORS-causing genes, Burrage et al. (2015) identified a de novo heterozygous c.16A-T transversion (c.16A-T, NM_015895.4) in exon 2 (the first coding exon) of the GMNN gene, resulting in a lys6-to-ter (L6X) substitution. The mutation, which was confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or ExAC databases. Functional studies in patient lymphocyte-derived cell lines suggested a gain-of-function mechanism in which the mutation results in a protein lacking the destruction box and hence having increased stability and prolonged inhibition of replication.

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

Last Updated: Mar 30, 2024