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NM_014780.4(CUL7):c.1067G>A (p.Arg356His)

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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 26, 2018
Accession:
VCV000502465.2
Variation ID:
502465
Description:
single nucleotide variant
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NM_014780.4(CUL7):c.1067G>A (p.Arg356His)

Allele ID
493889
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.1
Genomic location
6: 43051134 (GRCh38) GRCh38 UCSC
6: 43018872 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.43018872C>T
NC_000006.12:g.43051134C>T
NM_001168370.1:c.1319G>A NP_001161842.1:p.Arg440His missense
... more HGVS
Protein change
R356H, R440H
Other names
-
Canonical SPDI
NC_000006.12:43051133:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00030
The Genome Aggregation Database (gnomAD) 0.00105
Trans-Omics for Precision Medicine (TOPMed) 0.00099
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
The Genome Aggregation Database (gnomAD), exomes 0.00027
1000 Genomes Project 0.00120
Links
ClinGen: CA3814247
dbSNP: rs146227929
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 26, 2018 RCV000596789.2
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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
285 298

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 19, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000709208.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001093112.1
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 rs146227929...

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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