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NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 2, 2018
Accession:
VCV000158106.8
Variation ID:
158106
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)

Allele ID
167959
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91359660 (GRCh38) GRCh38 UCSC
14: 91826004 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91826004C>T
NC_000014.9:g.91359660C>T
NM_001080414.4:c.322G>A MANE Select NP_001073883.2:p.Gly108Ser missense
... more HGVS
Protein change
G108S
Other names
-
Canonical SPDI
NC_000014.9:91359659:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00025
Exome Aggregation Consortium (ExAC) 0.00025
The Genome Aggregation Database (gnomAD), exomes 0.00022
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00058
Links
ClinGen: CA171522
dbSNP: rs61745604
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 8, 2013 RCV000145435.1
Uncertain significance 1 criteria provided, single submitter Jul 1, 2018 RCV000995240.1
Uncertain significance 1 criteria provided, single submitter Oct 2, 2018 RCV001265961.1

Clinical features observed in individuals with this variant

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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
218 238

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192519.1
Submitted: (Sep 11, 2014)
Evidence details
Uncertain significance
(Oct 02, 2018)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001444133.1
Submitted: (Oct 09, 2020)
Evidence details
Uncertain significance
(Jul 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001149312.6
Submitted: (Jul 04, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs61745604...

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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 Jul 10, 2021