NM_017780.4(CHD7):c.7647dup (p.Glu2550fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 2015
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:
RCV000482479.1

Allele description [Variation Report for NM_017780.4(CHD7):c.7647dup (p.Glu2550fs)]

NM_017780.4(CHD7):c.7647dup (p.Glu2550fs)

Gene:
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.7647dup (p.Glu2550fs)
HGVS:
  • NC_000008.11:g.60860942dup
  • NG_007009.1:g.187163dup
  • NM_001316690.1:c.1717-1287dup
  • NM_017780.4:c.7647dupMANE SELECT
  • NP_060250.2:p.Glu2550fs
  • LRG_176t1:c.7647dup
  • LRG_176:g.187163dup
  • NC_000008.10:g.61773501dup
  • NM_017780.2:c.7647dupA
Protein change:
E2550fs
Links:
dbSNP: rs1554605972
NCBI 1000 Genomes Browser:
rs1554605972
Molecular consequence:
  • NM_017780.4:c.7647dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316690.1:c.1717-1287dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567125GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 13, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567125.4

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

Description

The c.7647dupA duplication in the CHD7 gene causes a frameshift starting with codon Glutamic Acid 2550,changes this amino acid to an Arginine residue and creates a premature Stop codon at position 26 of thenew reading frame, denoted p.Glu2550ArgfsX26. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, we consider it to be pathogenic.

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

Last Updated: Apr 23, 2022