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NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
May 4, 2018
Accession:
VCV000496944.2
Variation ID:
496944
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)

Allele ID
488368
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91273470 (GRCh38) GRCh38 UCSC
14: 91739814 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91739814C>T
NC_000014.9:g.91273470C>T
NM_001080414.4:c.5242G>A MANE Select NP_001073883.2:p.Gly1748Arg missense
... more HGVS
Protein change
G1748R
Other names
-
Canonical SPDI
NC_000014.9:91273469:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00248
Trans-Omics for Precision Medicine (TOPMed) 0.00209
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00249
The Genome Aggregation Database (gnomAD), exomes 0.00055
Exome Aggregation Consortium (ExAC) 0.00089
Links
ClinGen: CA7308690
dbSNP: rs200543687
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 4, 2018 RCV000593257.2
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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
(Jan 24, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000700786.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 04, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001042212.1
Submitted: (Mar 14, 2019)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CCDC88C - - - -

Text-mined citations for rs200543687...

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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 30, 2020