NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly) AND Neurodevelopmental abnormality

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 3, 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:: RCV001264718.1

Allele description [Variation Report for NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly)]

NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly)

Gene:

CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

Preferred name:

NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly)

HGVS:

NC_000008.11:g.60852673C>G
NG_007009.1:g.178894C>G
NM_001316690.1:c.1717-9556C>G
NM_017780.4:c.6070C>GMANE SELECT
NP_060250.2:p.Arg2024Gly
LRG_176:g.178894C>G
NC_000008.10:g.61765232C>G
NM_017780.3:c.6070C>G

Protein change:

R2024G

Links:

dbSNP: rs1360515765

NCBI 1000 Genomes Browser:

rs1360515765

Molecular consequence:

NM_001316690.1:c.1717-9556C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.6070C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental abnormality
Identifiers:: MedGen: C4022737; Human Phenotype Ontology: HP:0012759

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442949	Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	no assertion criteria provided	Likely benign (Apr 3, 2020)	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442949

Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

no assertion criteria provided

Likely benign
(Apr 3, 2020)

paternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442949.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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