NM_017780.4(CHD7):c.5284G>C (p.Glu1762Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 2019
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:: RCV002344477.2

Allele description [Variation Report for NM_017780.4(CHD7):c.5284G>C (p.Glu1762Gln)]

NM_017780.4(CHD7):c.5284G>C (p.Glu1762Gln)

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.5284G>C (p.Glu1762Gln)

HGVS:

NC_000008.11:g.60848588G>C
NG_007009.1:g.174809G>C
NM_001316690.1:c.1717-13641G>C
NM_017780.4:c.5284G>CMANE SELECT
NP_060250.2:p.Glu1762Gln
NP_060250.2:p.Glu1762Gln
LRG_176t1:c.5284G>C
LRG_176:g.174809G>C
LRG_176p1:p.Glu1762Gln
NC_000008.10:g.61761147G>C
NM_017780.2:c.5284G>C
NM_017780.3:c.5284G>C

Protein change:

E1762Q

Molecular consequence:

NM_001316690.1:c.1717-13641G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.5284G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002645235	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002645235

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 28, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002645235.2

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

Description

The p.E1762Q variant (also known as c.5284G>C), located in coding exon 23 of the CHD7 gene, results from a G to C substitution at nucleotide position 5284. The glutamic acid at codon 1762 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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