NM_001375380.1(EBF3):c.656T>C (p.Val219Ala) AND Hypotonia, ataxia, and delayed development syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 19, 2020
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:: RCV001254071.5

Allele description [Variation Report for NM_001375380.1(EBF3):c.656T>C (p.Val219Ala)]

NM_001375380.1(EBF3):c.656T>C (p.Val219Ala)

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.656T>C (p.Val219Ala)

HGVS:

NC_000010.11:g.129873577A>G
NG_030038.1:g.95251T>C
NM_001005463.3:c.656T>C
NM_001375379.1:c.656T>C
NM_001375380.1:c.656T>CMANE SELECT
NM_001375389.1:c.656T>C
NM_001375390.1:c.656T>C
NM_001375391.1:c.656T>C
NM_001375392.1:c.656T>C
NP_001005463.1:p.Val219Ala
NP_001362308.1:p.Val219Ala
NP_001362309.1:p.Val219Ala
NP_001362318.1:p.Val219Ala
NP_001362319.1:p.Val219Ala
NP_001362320.1:p.Val219Ala
NP_001362321.1:p.Val219Ala
NC_000010.10:g.131671841A>G

Protein change:

V219A

Links:

dbSNP: rs1852554969

NCBI 1000 Genomes Browser:

rs1852554969

Molecular consequence:

NM_001005463.3:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375379.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375380.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375389.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375390.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375391.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375392.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429985	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Feb 19, 2020)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001429985

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Feb 19, 2020)

de novo

clinical testing

Citation Link

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 Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001429985.1

#	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	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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