NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 24, 2021
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:: RCV002251669.2

Allele description [Variation Report for NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly)]

NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly)

Gene:

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

Variant type:

Indel

Cytogenetic location:

8q12.2

Genomic location:

Preferred name:

NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly)

HGVS:

NC_000008.11:g.60842018_60842020delinsGGC
NG_007009.1:g.168239_168241delinsGGC
NM_001316690.1:c.1717-20211_1717-20209delinsGGC
NM_017780.4:c.4816_4818delinsGGCMANE SELECT
NP_060250.2:p.Cys1606Gly
LRG_176t1:c.4816_4818delinsGGC
LRG_176:g.168239_168241delinsGGC
NC_000008.10:g.61754577_61754579delinsGGC
NM_017780.2:c.4816_4818delinsGGC

Protein change:

C1606G

Links:

dbSNP: rs2150786931

NCBI 1000 Genomes Browser:

rs2150786931

Molecular consequence:

NM_001316690.1:c.1717-20211_1717-20209delinsGGC - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.4816_4818delinsGGC - 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
SCV002522090	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 24, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002522090

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 24, 2021)

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, SCV002522090.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports 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: Dec 24, 2023

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