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

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 5, 2019)
Last evaluated:
Mar 16, 2018
Accession:
VCV000488373.2
Variation ID:
488373
Description:
single nucleotide variant
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NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)

Allele ID
481216
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.2
Genomic location
8: 60822651 (GRCh38) GRCh38 UCSC
8: 61735210 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.61735210C>T
NC_000008.11:g.60822651C>T
NM_017780.4:c.3106C>T MANE Select NP_060250.2:p.Arg1036Ter nonsense
... more HGVS
Protein change
R1036*
Other names
-
Canonical SPDI
NC_000008.11:60822650:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA371309988
dbSNP: rs1554597716
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Mar 16, 2018 RCV000578162.2
Pathogenic 1 criteria provided, single submitter Oct 31, 2016 RCV000578888.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHD7 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1607 1635

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 31, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000680502.1
Submitted: (Feb 07, 2018)
Evidence details
Comment:
The R1036X nonsense variant in the CHD7 gene has been reported previously in association with CHARGE syndrome (Jongmans et al., 2006; Husu et al., 2013). … (more)
Pathogenic
(Mar 16, 2018)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: de novo
Centre for Translational Omics - GOSgene,University College London
Accession: SCV000778569.1
Submitted: (Jun 12, 2018)
Evidence details
Pathogenic
(Oct 27, 2017)
no assertion criteria provided
Method: research
CHARGE association
Allele origin: de novo
SBielas Lab, Department of Human Genetics,University of Michigan
Accession: SCV000680055.1
Submitted: (Oct 30, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
CHARGE syndrome
Allele origin: de novo
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001197961.1
Submitted: (Nov 05, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Moccia A Genetics in medicine : official journal of the American College of Medical Genetics 2018 PMID: 29300383

Text-mined citations for rs1554597716...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021