NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) AND Mandibulofacial dysostosis-microcephaly syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 2012
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:: RCV000023354.4

Allele description [Variation Report for NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)]

NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)

Gene:

EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)

HGVS:

NC_000017.11:g.44851763G>A
NG_032674.1:g.52863C>T
NM_001142605.2:c.2665C>T
NM_001258353.2:c.2770C>T
NM_001258354.2:c.2740C>T
NM_004247.4:c.2770C>TMANE SELECT
NP_001136077.1:p.Gln889Ter
NP_001245282.1:p.Gln924Ter
NP_001245283.1:p.Gln914Ter
NP_004238.3:p.Gln924Ter
NC_000017.10:g.42929131G>A
NM_004247.3:c.2770C>T

Protein change:

Q889*; GLN924TER

Links:

OMIM: 603892.0002; dbSNP: rs387906878

NCBI 1000 Genomes Browser:

rs387906878

Molecular consequence:

NM_001142605.2:c.2665C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258353.2:c.2770C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258354.2:c.2740C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004247.4:c.2770C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Mandibulofacial dysostosis-microcephaly syndrome (MFDGA)
Synonyms:: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate; Mandibulofacial dysostosis, Guion-Almeida type
Identifiers:: MONDO: MONDO:0012516; MedGen: C1864652; Orphanet: 79113; OMIM: 610536

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044645	OMIM	no assertion criteria provided	Pathogenic (Feb 10, 2012)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19334086, 22305528

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044645

OMIM

no assertion criteria provided

Pathogenic
(Feb 10, 2012)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR.

Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747.

PubMed [citation]

PMID:: 19334086

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, et al.

Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2.

PubMed [citation]

PMID:: 22305528
PMCID:: PMC3276671

Details of each submission

From OMIM, SCV000044645.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536) reported by Wieczorek et al. (2009), Lines et al. (2012) identified a heterozygous de novo c.2770C-T transition in the EFTUD2 gene, resulting in a gln924-to-ter (Q924X) substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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