NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) AND CHARGE association

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 5, 2016
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:: RCV000258078.2

Allele description [Variation Report for NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)]

NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

8q12.2

Genomic location:

Preferred name:

NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)

HGVS:

NC_000008.11:g.60830371_60830372del
NG_007009.1:g.156592_156593del
NM_001316690.1:c.1717-31858_1717-31857del
NM_017780.4:c.3572_3573delMANE SELECT
NP_060250.2:p.Lys1191fs
LRG_176t1:c.3572_3573del
LRG_176:g.156592_156593del
NC_000008.10:g.61742930_61742931del
NM_017780.2:c.3572_3573delAA
p.[Lys1191Argfs*16]

Protein change:

K1191fs

Links:

dbSNP: rs886040987

NCBI 1000 Genomes Browser:

rs886040987

Molecular consequence:

NM_017780.4:c.3572_3573del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316690.1:c.1717-31858_1717-31857del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: CHARGE association (CHARGE)
Synonyms:: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328332	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Pathogenic (Sep 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328332

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Pathogenic
(Sep 5, 2016)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000328332.2

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

#	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		1	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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