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NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 31, 2021)
Last evaluated:
Oct 23, 2018
Accession:
VCV000761656.2
Variation ID:
761656
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)

Allele ID
769948
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91289171 (GRCh38) GRCh38 UCSC
14: 91755515 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91755515C>T
NC_000014.9:g.91289171C>T
NM_001080414.4:c.4375G>A MANE Select NP_001073883.2:p.Asp1459Asn missense
... more HGVS
Protein change
D1459N
Other names
-
Canonical SPDI
NC_000014.9:91289170:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00044
The Genome Aggregation Database (gnomAD), exomes 0.00036
Trans-Omics for Precision Medicine (TOPMed) 0.00034
The Genome Aggregation Database (gnomAD) 0.00035
Links
dbSNP: rs78570354
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Oct 23, 2018 RCV000939719.2
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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
227 247

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001085569.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550376.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The CCDC88C p.Asp1459Asn variant was not identified in the literature nor was it identified in ClinVar, Cosmic or LOVD 3.0. The variant was identified in … (more)

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 rs78570354...

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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 Apr 12, 2021