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NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)

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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:
Nov 1, 2020
Accession:
VCV000376774.8
Variation ID:
376774
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)

Allele ID
363652
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91297376 (GRCh38) GRCh38 UCSC
14: 91763720 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.91763720G>A
NC_000014.9:g.91297376G>A
NM_001080414.4:c.3895C>T MANE Select NP_001073883.2:p.Arg1299Cys missense
... more HGVS
Protein change
R1299C
Other names
-
Canonical SPDI
NC_000014.9:91297375:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00442
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00541
The Genome Aggregation Database (gnomAD) 0.00370
1000 Genomes Project 0.00220
Trans-Omics for Precision Medicine (TOPMed) 0.00493
Exome Aggregation Consortium (ExAC) 0.00490
Links
ClinGen: CA7309192
dbSNP: rs142539336
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 3 criteria provided, conflicting interpretations Nov 1, 2020 RCV000442039.5
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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
(Jan 31, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000510583.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Uncertain significance.
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001120837.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Nov 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246274.5
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 rs142539336...

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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