NM_004430.3(EGR3):c.591C>A (p.Tyr197Ter) AND Neurodevelopmental delay

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 13, 2017
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:: RCV001253432.1

Allele description [Variation Report for NM_004430.3(EGR3):c.591C>A (p.Tyr197Ter)]

NM_004430.3(EGR3):c.591C>A (p.Tyr197Ter)

Gene:

EGR3:early growth response 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

Preferred name:

NM_004430.3(EGR3):c.591C>A (p.Tyr197Ter)

HGVS:

NC_000008.11:g.22691046G>T
NM_001199880.2:c.477C>A
NM_001199881.2:c.429C>A
NM_004430.3:c.591C>AMANE SELECT
NP_001186809.1:p.Tyr159Ter
NP_001186810.1:p.Tyr143Ter
NP_004421.2:p.Tyr197Ter
NC_000008.10:g.22548559G>T
NM_001199880.1:c.477C>A

Protein change:

Y143*

Links:

dbSNP: rs1803935143

NCBI 1000 Genomes Browser:

rs1803935143

Molecular consequence:

NM_001199880.2:c.477C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001199881.2:c.429C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_004430.3:c.591C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Neurodevelopmental delay
Identifiers:: MedGen: C4022738; Human Phenotype Ontology: HP:0012758

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429138	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 13, 2017)	germline	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

SCV001429138

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 13, 2017)

germline

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	germline	yes	1	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, SCV001429138.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine