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NM_001367624.2(ZNF469):c.11496_11505del (p.Ser3833fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Dec 5, 2017
Accession:
VCV000595281.1
Variation ID:
595281
Description:
10bp deletion
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NM_001367624.2(ZNF469):c.11496_11505del (p.Ser3833fs)

Allele ID
586343
Variant type
Deletion
Variant length
10 bp
Cytogenetic location
16q24.2
Genomic location
16: 88438963-88438972 (GRCh38) GRCh38 UCSC
16: 88505371-88505380 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.88438966_88438975del
NC_000016.9:g.88505374_88505383del
NG_012236.2:g.16496_16505del
NM_001367624.2:c.11496_11505del MANE Select NP_001354553.1:p.Ser3833fs frameshift
Protein change
S3833fs
Other names
-
Canonical SPDI
NC_000016.10:88438962:GGGGAGCTTCGGG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1567517877
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 5, 2017 RCV000730787.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ZNF469 - - GRCh38
GRCh37
847 914

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 05, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858550.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ZNF469 - - - -

Text-mined citations for rs1567517877...

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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 Oct 24, 2021