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NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000447022.3
Variation ID:
447022
Description:
single nucleotide variant
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NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)

Allele ID
441700
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.11
Genomic location
14: 91278091 (GRCh38) GRCh38 UCSC
14: 91744435 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.91278091C>T
NC_000014.8:g.91744435C>T
NM_001080414.4:c.4889G>A MANE Select NP_001073883.2:p.Arg1630His missense
... more HGVS
Protein change
R1630H
Other names
-
Canonical SPDI
NC_000014.9:91278090:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00445
Exome Aggregation Consortium (ExAC) 0.00150
1000 Genomes Project 0.00419
The Genome Aggregation Database (gnomAD), exomes 0.00087
The Genome Aggregation Database (gnomAD) 0.00383
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00347
Links
dbSNP: rs115510695
ClinGen: CA7308804
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 30, 2017 RCV000517066.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000897482.2
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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
Likely benign
(Mar 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612706.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001041628.2
Submitted: (Jan 29, 2020)
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 rs115510695...

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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 May 04, 2020