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NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 18, 2017)
Last evaluated:
Oct 18, 2016
Accession:
VCV000411189.2
Variation ID:
411189
Description:
single nucleotide variant
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NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)

Allele ID
396545
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.2
Genomic location
8: 60856565 (GRCh38) GRCh38 UCSC
8: 61769124 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.61769124G>T
NC_000008.11:g.60856565G>T
NM_017780.4:c.7285G>T MANE Select NP_060250.2:p.Glu2429Ter nonsense
... more HGVS
Protein change
E2429*
Other names
-
Canonical SPDI
NC_000008.11:60856564:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16612460
dbSNP: rs773047607
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Oct 18, 2016 RCV000462550.3
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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
1622 1650

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 18, 2016)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000552238.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 2429 (p.Glu2429*) of the CHD7 gene. It is expected to result in an absent … (more)
Likely pathogenic
(Dec 13, 2017)
no assertion criteria provided
Method: clinical testing
CHARGE association
(Autosomal dominant inheritance)
Allele origin: germline
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV000680171.1
Submitted: (Dec 18, 2017)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs773047607...

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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 Aug 27, 2021