NM_017780.4(CHD7):c.6196G>A (p.Glu2066Lys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 18, 2023
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:: RCV003110101.3

Allele description [Variation Report for NM_017780.4(CHD7):c.6196G>A (p.Glu2066Lys)]

NM_017780.4(CHD7):c.6196G>A (p.Glu2066Lys)

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.6196G>A (p.Glu2066Lys)

HGVS:

NC_000008.11:g.60852921G>A
NG_007009.1:g.179142G>A
NM_001316690.1:c.1717-9308G>A
NM_017780.4:c.6196G>AMANE SELECT
NP_060250.2:p.Glu2066Lys
NP_060250.2:p.Glu2066Lys
LRG_176t1:c.6196G>A
LRG_176:g.179142G>A
LRG_176p1:p.Glu2066Lys
NC_000008.10:g.61765480G>A
NM_017780.2:c.6196G>A

Protein change:

E2066K

Molecular consequence:

NM_001316690.1:c.1717-9308G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.6196G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003762039	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003762039

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 18, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003762039.2

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

Description

Apparently de novo variant in a patient with some features of CHARGE syndrome previously tested at GeneDx; Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 11, 2023

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Relating variation to medicine