Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_017780.4(CHD7):c.216T>C (p.Tyr72=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(8);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
10 (Most recent: Sep 17, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000095778.11
Variation ID:
95778
Description:
single nucleotide variant
Help

NM_017780.4(CHD7):c.216T>C (p.Tyr72=)

Allele ID
101675
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.2
Genomic location
8: 60741648 (GRCh38) GRCh38 UCSC
8: 61654207 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_176:g.67869T>C
LRG_176t1:c.216T>C LRG_176p1:p.(=)
NC_000008.10:g.61654207T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:60741647:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00592
1000 Genomes Project 0.00379
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
The Genome Aggregation Database (gnomAD) 0.00271
Trans-Omics for Precision Medicine (TOPMed) 0.00314
The Genome Aggregation Database (gnomAD), exomes 0.00723
Links
ClinGen: CA148853
dbSNP: rs16926453
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Aug 23, 2017 RCV000081823.9
Benign 2 criteria provided, multiple submitters, no conflicts Aug 1, 2019 RCV000857583.4
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000290994.2
Benign 1 criteria provided, single submitter Apr 8, 2016 RCV000716057.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 26, 2020 RCV000145656.8
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Kallmann Syndrome 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000474367.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000562418.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
CHARGE syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192757.1
Submitted: (Sep 11, 2014)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312953.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Sep 17, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113758.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://browser.1000genomes.org/H…
Benign
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967051.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Tyr72Tyr in exon 2 of CHD7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, … (more)
Benign
(Aug 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143547.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Benign
(Apr 08, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846890.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001889461.1
Submitted: (Sep 17, 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: SCV000192811.1
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

Functional evidence

Help
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

Help
Title Author Journal Year Link
Mutations in the CHD7 gene: the experience of a commercial laboratory. Bartels CF Genetic testing and molecular biomarkers 2010 PMID: 21158681
http://browser.1000genomes.org/Homo_sapiens/Variation/Population?db=core%3Br=8%3A61653707-61654707%3Bv=rs16926453%3Bvdb=variation%3Bvf=9694130 - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CHD7 - - - -

Text-mined citations for rs16926453...

Help
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 18, 2021