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NM_014780.4(CUL7):c.2645G>A (p.Arg882Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Jun 22, 2018
Accession:
VCV000290744.2
Variation ID:
290744
Description:
single nucleotide variant
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NM_014780.4(CUL7):c.2645G>A (p.Arg882Gln)

Allele ID
274981
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.1
Genomic location
6: 43046251 (GRCh38) GRCh38 UCSC
6: 43013989 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.43013989C>T
NC_000006.12:g.43046251C>T
NM_001168370.1:c.2897G>A NP_001161842.1:p.Arg966Gln missense
... more HGVS
Protein change
R882Q, R966Q
Other names
-
Canonical SPDI
NC_000006.12:43046250:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00049
1000 Genomes Project 0.00260
Exome Aggregation Consortium (ExAC) 0.00059
Trans-Omics for Precision Medicine (TOPMed) 0.00212
The Genome Aggregation Database (gnomAD) 0.00175
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Links
ClinGen: CA3813775
dbSNP: rs45574335
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 2 criteria provided, conflicting interpretations Jun 22, 2018 RCV000401634.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CUL7 - - GRCh38
GRCh37
292 305

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 18, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000345368.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001049656.1
Submitted: (Mar 14, 2019)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CUL7 - - - -

Text-mined citations for rs45574335...

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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 Oct 30, 2020