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NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 19, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000434622.4
Variation ID:
434622
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)

Allele ID
429606
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91305920 (GRCh38) GRCh38 UCSC
14: 91772264 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91772264C>A
NC_000014.9:g.91305920C>A
NM_001080414.4:c.3202G>T MANE Select NP_001073883.2:p.Ala1068Ser missense
... more HGVS
Protein change
A1068S
Other names
-
Canonical SPDI
NC_000014.9:91305919:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD), exomes 0.00167
The Genome Aggregation Database (gnomAD) 0.00105
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00162
Trans-Omics for Precision Medicine (TOPMed) 0.00129
Exome Aggregation Consortium (ExAC) 0.00150
Links
ClinGen: CA7309413
dbSNP: rs201044013
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts May 5, 2017 RCV000501265.2
Likely benign 2 criteria provided, single submitter Dec 31, 2019 RCV000951314.3
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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
202 222

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000593905.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Jan 26, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612699.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001097705.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001800003.1
Submitted: (Aug 19, 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 rs201044013...

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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 Aug 25, 2021