NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) AND CHARGE association

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 27, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000578185.2

Allele description [Variation Report for NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs)]

NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs)

Gene:
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs)
HGVS:
  • NC_000008.11:g.60742772AG[1]
  • NG_007009.1:g.68993AG[1]
  • NM_001316690.1:c.1342_1343del
  • NM_017780.4:c.1342_1343delMANE SELECT
  • NP_001303619.1:p.Arg448fs
  • NP_060250.2:p.Arg448fs
  • LRG_176t1:c.1342_1343del
  • LRG_176:g.68993AG[1]
  • NC_000008.10:g.61655331AG[1]
  • NM_017780.2:c.1342_1343delAG
  • NM_017780.4:c.1342_1343delAGMANE SELECT
Protein change:
R448fs
Links:
dbSNP: rs1554581674
NCBI 1000 Genomes Browser:
rs1554581674
Molecular consequence:
  • NM_001316690.1:c.1342_1343del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017780.4:c.1342_1343del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680042SBielas Lab, Department of Human Genetics,University of Michiganno assertion criteria providedPathogenic
(Oct 27, 2017)
de novoresearch

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

SCV001197948University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenicde novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL.

Genet Med. 2018 Sep;20(9):1022-1029. doi: 10.1038/gim.2017.233. Epub 2018 Jan 4.

PubMed [citation]
PMID:
29300383
PMCID:
PMC6034995

Details of each submission

From SBielas Lab, Department of Human Genetics,University of Michigan, SCV000680042.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001197948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 28, 2021

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