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NM_017780.4(CHD7):c.584dup (p.Gly196fs) AND CHARGE syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2024
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:
RCV003991992.1

Allele description [Variation Report for NM_017780.4(CHD7):c.584dup (p.Gly196fs)]

NM_017780.4(CHD7):c.584dup (p.Gly196fs)

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.584dup (p.Gly196fs)
HGVS:
  • NC_000008.11:g.60742016dup
  • NG_007009.1:g.68237dup
  • NM_001316690.1:c.584dup
  • NM_017780.4:c.584dupMANE SELECT
  • NP_001303619.1:p.Gly196fs
  • NP_060250.2:p.Gly196Trpfs
  • NP_060250.2:p.Gly196fs
  • LRG_176t1:c.584dup
  • LRG_176:g.68237dup
  • LRG_176p1:p.Gly196Trpfs
  • NC_000008.10:g.61654575dup
  • NM_001316690.1:c.584dupG
  • NM_017780.2:c.584dup
Protein change:
G196fs
Molecular consequence:
  • NM_001316690.1:c.584dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017780.4:c.584dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004809161Pediatric Genomics Discovery Program, Yale University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 5, 2024) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Pediatric Genomics Discovery Program, Yale University, SCV004809161.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

The p.R195fs variant has not previously been reported. This duplication would be predicted to result in a frameshift variant, with the premature introduction of a stop codon and either mRNA decay or truncated protein to result. CHARGE syndrome (autosomal dominant) is typically caused by putative loss of function variants such as this. This variant was reported to be de novo in a patient with CHARGE syndrome and PNALD.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024