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NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 2, 2016)
Accession:
VCV000266094.1
Variation ID:
266094
Description:
single nucleotide variant
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NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)

Allele ID
260916
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q23.1
Genomic location
14: 58467887 (GRCh38) GRCh38 UCSC
14: 58934605 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.58467887T>G
NC_000014.8:g.58934605T>G
NM_001329943.3:c.2407T>G MANE Select NP_001316872.1:p.Ser803Ala missense
... more HGVS
Protein change
S856A, S727A, S718A, S788A, S759A, S663A, S803A
Other names
-
Canonical SPDI
NC_000014.9:58467886:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA10588973
dbSNP: rs886039806
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 no assertion criteria provided - RCV000256428.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KIAA0586 - - GRCh38
GRCh37
299 317

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Meckel syndrome
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000322788.1
Submitted: (Oct 02, 2016)
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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Title Author Journal Year Link
Characterizing the morbid genome of ciliopathies. Shaheen R Genome biology 2016 PMID: 27894351

Text-mined citations for rs886039806...

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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 Feb 03, 2021