NM_004247.4(EFTUD2):c.870-5_870-4del AND Mandibulofacial dysostosis-microcephaly syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2021
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:: RCV001788523.1

Allele description [Variation Report for NM_004247.4(EFTUD2):c.870-5_870-4del]

NM_004247.4(EFTUD2):c.870-5_870-4del

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.870-5_870-4del

HGVS:

NC_000017.11:g.44872575_44872576del
NG_032674.1:g.32051_32052del
NM_001142605.2:c.765-5_765-4del
NM_001258353.2:c.870-5_870-4del
NM_001258354.2:c.840-5_840-4del
NM_004247.4:c.870-5_870-4delMANE SELECT
NC_000017.10:g.42949943_42949944del
NM_004247.4:c.870-5_870-4delTTMANE SELECT

Links:

dbSNP: rs2145503920

NCBI 1000 Genomes Browser:

rs2145503920

Molecular consequence:

NM_001142605.2:c.765-5_765-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258353.2:c.870-5_870-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258354.2:c.840-5_840-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_004247.4:c.870-5_870-4del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV001712173	Pediatric Genetics Clinic, Sheba Medical Center	no assertion criteria provided	Likely pathogenic (May 13, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001712173

Pediatric Genetics Clinic, Sheba Medical Center

no assertion criteria provided

Likely pathogenic
(May 13, 2021)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Pediatric Genetics Clinic, Sheba Medical Center, SCV001712173.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Dec 24, 2023

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