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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 17, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000202433.1

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]

Observations:

Condition(s)

Name:: Meier-Gorlin syndrome (MGORS1)
Identifiers:: MONDO: MONDO:0016817; MedGen: C1868684; OMIM: PS224690

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224003	Baylor Genetics - GMNN	criteria provided, single submitter (Submitter's publication)	Pathogenic (Jun 17, 2015)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224003

Baylor Genetics - GMNN

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Jun 17, 2015)

de novo

clinical testing

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	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

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 Baylor Genetics - GMNN, SCV000224003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (1)

Description

This nonsense variant was found once in our laboratory de novo in a 2-year-old female with Meier-Gorlin syndrome

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: Mar 30, 2024

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