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NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Jun 1, 2021
Accession:
VCV000158097.11
Variation ID:
158097
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)

Allele ID
167949
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91313360 (GRCh38) GRCh38 UCSC
14: 91779704 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91779704T>C
NC_000014.9:g.91313360T>C
NG_033118.1:g.109485A>G
... more HGVS
Protein change
D819G
Other names
-
Canonical SPDI
NC_000014.9:91313359:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00110
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00220
Trans-Omics for Precision Medicine (TOPMed) 0.00129
The Genome Aggregation Database (gnomAD) 0.00096
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00102
Links
ClinGen: CA171514
dbSNP: rs61743881
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 24, 2017 RCV000145426.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 1, 2021 RCV000969369.6
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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
227 247

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 24, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192515.2
Submitted: (Oct 04, 2017)
Evidence details
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001116882.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Jun 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246275.5
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742859.3
Submitted: (Sep 02, 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 rs61743881...

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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 Sep 07, 2021