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NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) AND Mandibulofacial dysostosis-microcephaly syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 2017
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:
RCV000496140.2

Allele description [Variation Report for NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)]

NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)

Gene:
EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)
HGVS:
  • NC_000017.11:g.44859987_44859991del
  • NG_032674.1:g.44636_44640del
  • NM_001142605.2:c.1670_1674del
  • NM_001258353.2:c.1775_1779del
  • NM_001258354.2:c.1745_1749del
  • NM_004247.4:c.1775_1779delMANE SELECT
  • NP_001136077.1:p.Val557fs
  • NP_001245282.1:p.Val592fs
  • NP_001245283.1:p.Val582fs
  • NP_004238.3:p.Val592fs
  • NC_000017.10:g.42937355_42937359del
Protein change:
V557fs
Links:
dbSNP: rs1135401812
NCBI 1000 Genomes Browser:
rs1135401812
Molecular consequence:
  • NM_001142605.2:c.1670_1674del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258353.2:c.1775_1779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258354.2:c.1745_1749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004247.4:c.1775_1779del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000586780Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 6, 2017) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, et al.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

PubMed [citation]
PMID:
28708303

Details of each submission

From Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris, SCV000586780.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Intellectual disability, mild; postnatal microcephaly; 2-3 syndactyly; dysmorphism

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022