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NM_017780.4(CHD7):c.3209del (p.Val1070fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Nov 5, 2019)
Last evaluated:
Oct 27, 2017
Accession:
VCV000488366.2
Variation ID:
488366
Description:
1bp deletion
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NM_017780.4(CHD7):c.3209del (p.Val1070fs)

Allele ID
481217
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
8q12.2
Genomic location
8: 60823847 (GRCh38) GRCh38 UCSC
8: 61736406 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.61736406del
NC_000008.11:g.60823847del
NM_017780.4:c.3209del MANE Select NP_060250.2:p.Val1070fs frameshift
... more HGVS
Protein change
V1070fs
Other names
-
Canonical SPDI
NC_000008.11:60823846:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658683507
dbSNP: rs1554597952
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Oct 27, 2017 RCV000578186.2
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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
1584 1612

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000680045.1
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: SCV001197951.1
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 rs1554597952...

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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