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NM_001375380.1(EBF3):c.412-2A>T AND Hypotonia, ataxia, and delayed development syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 11, 2020
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:
RCV001283832.1

Allele description [Variation Report for NM_001375380.1(EBF3):c.412-2A>T]

NM_001375380.1(EBF3):c.412-2A>T

Gene:
EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_001375380.1(EBF3):c.412-2A>T
HGVS:
  • NC_000010.11:g.129959009T>A
  • NG_030038.1:g.9819A>T
  • NG_121136.1:g.872T>A
  • NM_001005463.3:c.412-2A>T
  • NM_001375379.1:c.412-2A>T
  • NM_001375380.1:c.412-2A>TMANE SELECT
  • NM_001375389.1:c.412-2A>T
  • NM_001375390.1:c.412-2A>T
  • NM_001375391.1:c.412-2A>T
  • NM_001375392.1:c.412-2A>T
  • NC_000010.10:g.131757273T>A
  • NM_001005463.2:c.412-2A>T
Links:
dbSNP: rs1859264278
NCBI 1000 Genomes Browser:
rs1859264278
Molecular consequence:
  • NM_001005463.3:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001375379.1:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001375380.1:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001375389.1:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001375390.1:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001375391.1:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001375392.1:c.412-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hypotonia, ataxia, and delayed development syndrome (HADDS)
Identifiers:
MONDO: MONDO:0015021; MedGen: C4310618; OMIM: 617330

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001469254Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Oct 11, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001469254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024