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NM_001367624.1(ZNF469):c.1069T>C (p.Ser357Pro)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 19, 2018)
Last evaluated:
Sep 29, 2016
Accession:
VCV000193177.1
Variation ID:
193177
Description:
single nucleotide variant
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NM_001367624.1(ZNF469):c.1069T>C (p.Ser357Pro)

Allele ID
190342
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.2
Genomic location
16: 88428539 (GRCh38) GRCh38 UCSC
16: 88494947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.88428539T>C
NC_000016.9:g.88494947T>C
NM_001367624.1:c.1069T>C NP_001354553.1:p.Ser357Pro missense
NG_012236.2:g.6069T>C
Protein change
S357P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01098 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.98273
1000 Genomes Project 0.98902
Trans-Omics for Precision Medicine (TOPMed) 0.97352
Links
dbSNP: rs11648572
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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, multiple submitters, no conflicts Sep 29, 2016 RCV000173223.2
Benign 3 criteria provided, single submitter Jun 14, 2016 RCV000352613.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ZNF469 - - GRCh38
GRCh37
534 597

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000524267.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Jul 14, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000224318.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
http://www.ncbi.nlm.nih.gov/va...
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Brittle Cornea Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000399266.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
Allele origin: germline
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733524.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(Jan 15, 2016)
no assertion criteria provided
Method: clinical testing
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
Allele origin: germline
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam
Study: VKGL Data-share Consensus
Accession: SCV000745862.1
Submitted: (Apr 09, 2018)
Evidence details

Record last updated Sep 10, 2019