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NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln) AND Hypotonia, ataxia, and delayed development syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 4, 2022
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:
RCV002249038.3

Allele description [Variation Report for NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)]

NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)

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.188G>A (p.Arg63Gln)
HGVS:
  • NC_000010.11:g.129963470C>T
  • NG_030038.1:g.5358G>A
  • NM_001005463.3:c.188G>A
  • NM_001375379.1:c.188G>A
  • NM_001375380.1:c.188G>AMANE SELECT
  • NM_001375389.1:c.188G>A
  • NM_001375390.1:c.188G>A
  • NM_001375391.1:c.188G>A
  • NM_001375392.1:c.188G>A
  • NP_001005463.1:p.Arg63Gln
  • NP_001362308.1:p.Arg63Gln
  • NP_001362309.1:p.Arg63Gln
  • NP_001362318.1:p.Arg63Gln
  • NP_001362319.1:p.Arg63Gln
  • NP_001362320.1:p.Arg63Gln
  • NP_001362321.1:p.Arg63Gln
  • NC_000010.10:g.131761734C>T
Protein change:
R63Q
Links:
dbSNP: rs2134659487
NCBI 1000 Genomes Browser:
rs2134659487
Molecular consequence:
  • NM_001005463.3:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375379.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375380.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375389.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375390.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375391.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375392.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002516323Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Likely pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link,

SCV002564425Center for Molecular Medicine, Children’s Hospital of Fudan University
no assertion criteria provided
Likely pathogenic
(Aug 11, 2022) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002516323.1

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

From Center for Molecular Medicine, Children’s Hospital of Fudan University, SCV002564425.1

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

Last Updated: Jul 15, 2024