NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 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:: RCV002402845.2

Allele description [Variation Report for NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg)]

NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg)

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.7681G>A (p.Gly2561Arg)

HGVS:

NC_000008.11:g.60860976G>A
NG_007009.1:g.187197G>A
NM_001316690.1:c.1717-1253G>A
NM_017780.4:c.7681G>AMANE SELECT
NP_060250.2:p.Gly2561Arg
LRG_176:g.187197G>A
NC_000008.10:g.61773535G>A
NM_017780.3:c.7681G>A
NM_017780.4:c.7681G>A

Protein change:

G2561R

Links:

dbSNP: rs774255090

NCBI 1000 Genomes Browser:

rs774255090

Molecular consequence:

NM_001316690.1:c.1717-1253G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.7681G>A - 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
SCV002669484	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002669484

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 28, 2017)

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, SCV002669484.2

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

Description

The p.G2561R variant (also known as c.7681G>A), located in coding exon 34 of the CHD7 gene, results from a G to A substitution at nucleotide position 7681. The glycine at codon 2561 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. 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: Sep 29, 2024

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