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NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 19, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000376980.4
Variation ID:
376980
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)

Allele ID
363858
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91339918 (GRCh38) GRCh38 UCSC
14: 91806262 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91806262C>T
NC_000014.9:g.91339918C>T
NM_001080414.4:c.590G>A MANE Select NP_001073883.2:p.Arg197Gln missense
... more HGVS
Protein change
R197Q
Other names
-
Canonical SPDI
NC_000014.9:91339917:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00084
1000 Genomes Project 0.00080
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00040
Exome Aggregation Consortium (ExAC) 0.00089
The Genome Aggregation Database (gnomAD) 0.00054
The Genome Aggregation Database (gnomAD), exomes 0.00045
Links
ClinGen: CA7310199
dbSNP: rs200769097
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765189.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 31, 2019 RCV000443675.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CCDC88C - - GRCh38
GRCh37
194 214

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain Significance
(Sep 13, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511001.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Uncertain significance.
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital hydrocephalus 1
Spinocerebellar ataxia 40
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896424.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001062978.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Oct 08, 2019)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001793635.1
Submitted: (Aug 19, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as … (more)

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs200769097...

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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 Aug 20, 2021