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NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2021
Accession:
VCV000447023.3
Variation ID:
447023
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)

Allele ID
441699
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91273625 (GRCh38) GRCh38 UCSC
14: 91739969 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91739969A>G
NC_000014.9:g.91273625A>G
NM_001080414.4:c.5087T>C MANE Select NP_001073883.2:p.Leu1696Pro missense
... more HGVS
Protein change
L1696P
Other names
-
Canonical SPDI
NC_000014.9:91273624:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00228
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00133
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00088
The Genome Aggregation Database (gnomAD), exomes 0.00227
The Genome Aggregation Database (gnomAD) 0.00366
Links
ClinGen: CA7308736
dbSNP: rs77154172
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, multiple submitters, no conflicts May 1, 2021 RCV000916016.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2016 RCV000517979.1
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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
218 238

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612707.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001061245.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(May 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001747114.1
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 rs77154172...

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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 13, 2021