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NM_014780.4(CUL7):c.4659G>A (p.Glu1553=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV000290743.5
Variation ID:
290743
Description:
single nucleotide variant
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NM_014780.4(CUL7):c.4659G>A (p.Glu1553=)

Allele ID
274980
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.1
Genomic location
6: 43038381 (GRCh38) GRCh38 UCSC
6: 43006119 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_016205.1:g.20565G>A
NC_000006.11:g.43006119C>T
NC_000006.12:g.43038381C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:43038380:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00029
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
Trans-Omics for Precision Medicine (TOPMed) 0.00125
Exome Aggregation Consortium (ExAC) 0.00036
The Genome Aggregation Database (gnomAD) 0.00131
Links
ClinGen: CA3813143
dbSNP: rs139243761
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 Jan 13, 2018 RCV001163875.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 3, 2020 RCV000369713.4
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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
(Aug 18, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000345367.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Three M syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001325959.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001049655.3
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CUL7 - - - -

Text-mined citations for rs139243761...

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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 Jun 14, 2021