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NM_001080414.4(CCDC88C):c.809+7C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Jul 1, 2019
Accession:
VCV000724607.6
Variation ID:
724607
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.809+7C>T

Allele ID
744834
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91339271 (GRCh38) GRCh38 UCSC
14: 91805615 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91805615G>A
NC_000014.9:g.91339271G>A
NM_001080414.4:c.809+7C>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:91339270:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00041
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00037
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs575390201
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 Jul 1, 2019 RCV000898549.2
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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
Benign
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001042761.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jul 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246276.5
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 rs575390201...

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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