U.S. flag

An official website of the United States government

NM_017780.4(CHD7):c.6627del (p.Glu2210fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 11, 2019
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:
RCV001810632.13

Allele description [Variation Report for NM_017780.4(CHD7):c.6627del (p.Glu2210fs)]

NM_017780.4(CHD7):c.6627del (p.Glu2210fs)

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.6627del (p.Glu2210fs)
HGVS:
  • NC_000008.11:g.60853352del
  • NG_007009.1:g.179573del
  • NM_001316690.1:c.1717-8877del
  • NM_017780.4:c.6627delMANE SELECT
  • NP_060250.2:p.Glu2210fs
  • LRG_176:g.179573del
  • NC_000008.10:g.61765911del
  • NC_000008.10:g.61765911delA
Protein change:
E2210fs
Links:
dbSNP: rs1805560892
NCBI 1000 Genomes Browser:
rs1805560892
Molecular consequence:
  • NM_017780.4:c.6627del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316690.1:c.1717-8877del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001474532ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Sep 11, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CHD7 c.6627delA; p.Glu2210fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been identified in individuals with CHARGE syndrome and are considered pathogenic (Bartels 2010, Janssen 2012). Based on available information, this variant is considered to be pathogenic. References: Bartels CF et al. Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers. 2010 Dec;14(6):881-91. Janssen N et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012 Aug;33(8):1149-60.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024