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NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000158119.9
Variation ID:
158119
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)

Allele ID
167972
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91272732 (GRCh38) GRCh38 UCSC
14: 91739076 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91739076G>C
NC_000014.9:g.91272732G>C
NM_001080414.4:c.5980C>G MANE Select NP_001073883.2:p.Arg1994Gly missense
... more HGVS
Protein change
R1994G
Other names
-
Canonical SPDI
NC_000014.9:91272731:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
1000 Genomes Project 0.00339
Trans-Omics for Precision Medicine (TOPMed) 0.00463
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00465
The Genome Aggregation Database (gnomAD) 0.00650
Links
ClinGen: CA171546
dbSNP: rs45560241
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 Sep 3, 2015 RCV000145448.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000957235.3
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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
202 214

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 03, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000192532.2
Submitted: (Oct 04, 2017)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001104033.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Apr 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001149295.6
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 rs45560241...

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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