NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 26, 2018
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:: RCV002317386.9

Allele description [Variation Report for NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)]

NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)

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.5824C>T (p.Arg1942Trp)

HGVS:

NC_000008.11:g.60852177C>T
NG_007009.1:g.178398C>T
NM_001316690.1:c.1717-10052C>T
NM_017780.4:c.5824C>TMANE SELECT
NP_060250.2:p.Arg1942Trp
LRG_176:g.178398C>T
NC_000008.10:g.61764736C>T
NM_017780.3:c.5824C>T

Protein change:

R1942W

Links:

dbSNP: rs200441929

NCBI 1000 Genomes Browser:

rs200441929

Molecular consequence:

NM_001316690.1:c.1717-10052C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.5824C>T - 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
SCV000850732	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850732

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 26, 2018)

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, SCV000850732.5

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

Description

The p.R1942W variant (also known as c.5824C>T), located in coding exon 28 of the CHD7 gene, results from a C to T substitution at nucleotide position 5824. The arginine at codon 1942 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on available evidence to date, the clinical significance of this variant 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: Jan 25, 2025

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