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NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001003596.1

Allele description [Variation Report for NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)]

NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)

Gene:
EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)
HGVS:
  • NC_000010.11:g.129963375_129963378del
  • NG_030038.1:g.5450_5453del
  • NM_001005463.3:c.280_283del
  • NM_001375379.1:c.280_283del
  • NM_001375380.1:c.280_283delMANE SELECT
  • NM_001375389.1:c.280_283del
  • NM_001375390.1:c.280_283del
  • NM_001375391.1:c.280_283del
  • NM_001375392.1:c.280_283del
  • NP_001005463.1:p.Glu94fs
  • NP_001362308.1:p.Glu94fs
  • NP_001362309.1:p.Glu94fs
  • NP_001362318.1:p.Glu94fs
  • NP_001362319.1:p.Glu94fs
  • NP_001362320.1:p.Glu94fs
  • NP_001362321.1:p.Glu94fs
  • NC_000010.10:g.131761639_131761642del
  • NM_001005463.2:c.280_283del
Protein change:
E94fs
Links:
OMIM: 607407.0009; dbSNP: rs1057519521
NCBI 1000 Genomes Browser:
rs1057519521
Molecular consequence:
  • NM_001005463.3:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375379.1:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375380.1:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375389.1:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375390.1:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375391.1:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375392.1:c.280_283del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Constipation
Synonyms:
Constipation disorder
Identifiers:
MONDO: MONDO:0002203; MedGen: C0009806; Human Phenotype Ontology: HP:0002019
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Recurrent urinary tract infections
Synonyms:
Recurrent UTI
Identifiers:
MedGen: C0262655; Human Phenotype Ontology: HP:0000010
Name:
Vesicoureteral reflux (VUR)
Synonyms:
Vesicoureteric reflux; Vesico-Ureteral Reflux
Identifiers:
MONDO: MONDO:0006007; MedGen: C0042580; Human Phenotype Ontology: HP:0000076
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Growth abnormality
Identifiers:
MedGen: C0262361; Human Phenotype Ontology: HP:0001507

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161990NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenicunknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161990.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024