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NM_017780.4(CHD7):c.1665+34G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 9, 2021)
Last evaluated:
Jul 22, 2021
Accession:
VCV000158324.5
Variation ID:
158324
Description:
single nucleotide variant
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NM_017780.4(CHD7):c.1665+34G>A

Allele ID
168596
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.2
Genomic location
8: 60743131 (GRCh38) GRCh38 UCSC
8: 61655690 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_176:g.69352G>A
NC_000008.10:g.61655690G>A
NC_000008.11:g.60743131G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:60743130:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.17292 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.77916
The Genome Aggregation Database (gnomAD), exomes 0.80871
Exome Aggregation Consortium (ExAC) 0.81191
1000 Genomes Project 0.82708
Trans-Omics for Precision Medicine (TOPMed) 0.76520
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.76248
Links
ClinGen: CA171773
dbSNP: rs7836586
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter - RCV000145701.5
Benign 1 criteria provided, single submitter May 3, 2020 RCV001283237.1
Benign 1 criteria provided, single submitter Jul 22, 2021 RCV001579197.1
Benign 1 criteria provided, single submitter Jul 22, 2021 RCV001579198.1
Benign 1 no assertion criteria provided Mar 3, 2015 RCV001618295.1
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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
1549 1577

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312948.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(May 03, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603075.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001806646.1
Submitted: (Aug 23, 2021)
Evidence details
Benign
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Hypogonadotropic hypogonadism 5 with or without anosmia
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001806647.1
Submitted: (Aug 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192809.1
Submitted: (Sep 11, 2014)
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Evidence details
Benign
(Mar 03, 2015)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001842856.1
Submitted: (Sep 09, 2021)
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 rs7836586...

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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 Sep 12, 2021