NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) AND CHARGE association

Clinical significance:Pathogenic (Last evaluated: Mar 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000578162.2

Allele description [Variation Report for NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)]

NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)

Gene:
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)
HGVS:
  • NC_000008.11:g.60822651C>T
  • NG_007009.1:g.148872C>T
  • NM_001316690.1:c.1717-39578C>T
  • NM_017780.4:c.3106C>TMANE SELECT
  • NP_060250.2:p.Arg1036Ter
  • LRG_176t1:c.3106C>T
  • LRG_176:g.148872C>T
  • NC_000008.10:g.61735210C>T
  • NM_017780.2:c.3106C>T
  • NM_017780.3:c.3106C>T
Protein change:
R1036*
Links:
dbSNP: rs1554597716
NCBI 1000 Genomes Browser:
rs1554597716
Molecular consequence:
  • NM_001316690.1:c.1717-39578C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.3106C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680055SBielas 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]

SCV000778569Centre for Translational Omics - GOSgene,University College Londoncriteria provided, single submitter
Pathogenic
(Mar 16, 2018)
de novoclinical testing

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

SCV001197961University 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 providedclinical testing, research

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

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, SCV000680055.1

#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 Centre for Translational Omics - GOSgene,University College London, SCV000778569.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing 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, SCV001197961.1

#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: Apr 12, 2021

Support Center