NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp) AND Hypotonia, ataxia, and delayed development syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 12, 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:: RCV001706809.3

Allele description [Variation Report for NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)]

NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)

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.187C>T (p.Arg63Trp)

HGVS:

NC_000010.11:g.129963471G>A
NG_030038.1:g.5357C>T
NM_001005463.3:c.187C>T
NM_001375379.1:c.187C>T
NM_001375380.1:c.187C>TMANE SELECT
NM_001375389.1:c.187C>T
NM_001375390.1:c.187C>T
NM_001375391.1:c.187C>T
NM_001375392.1:c.187C>T
NP_001005463.1:p.Arg63Trp
NP_001362308.1:p.Arg63Trp
NP_001362309.1:p.Arg63Trp
NP_001362318.1:p.Arg63Trp
NP_001362319.1:p.Arg63Trp
NP_001362320.1:p.Arg63Trp
NP_001362321.1:p.Arg63Trp
NC_000010.10:g.131761735G>A

Protein change:

R63W

Links:

dbSNP: rs2134659512

NCBI 1000 Genomes Browser:

rs2134659512

Molecular consequence:

NM_001005463.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375379.1:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375380.1:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375389.1:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375390.1:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375391.1:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375392.1:c.187C>T - 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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PREDICTED: Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1)...
PREDICTED: Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), transcript variant X8, mRNA
gi|2217335444|ref|XM_047440249.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934319	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 12, 2020)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001934319

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 12, 2020)

de novo

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001934319.3

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

Description

Criteria applied: PS2_MOD, PMI_SUP, PM2-SUP, PM5-SUP, PP2

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

Last Updated: Jul 15, 2024

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