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NM_014780.4(CUL7):c.2115C>T (p.His705=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000356843.4
Variation ID:
356843
Description:
single nucleotide variant
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NM_014780.4(CUL7):c.2115C>T (p.His705=)

Allele ID
302984
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.1
Genomic location
6: 43048202 (GRCh38) GRCh38 UCSC
6: 43015940 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.43015940G>A
NC_000006.12:g.43048202G>A
NM_001168370.1:c.2367C>T NP_001161842.1:p.His789= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:43048201:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Exome Aggregation Consortium (ExAC) 0.00047
The Genome Aggregation Database (gnomAD), exomes 0.00056
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00076
Trans-Omics for Precision Medicine (TOPMed) 0.00094
Links
ClinGen: CA3813985
dbSNP: rs143128153
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000301545.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000730811.3
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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
306 319

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 15, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858575.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001044217.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Three M syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000463410.3
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)

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 rs143128153...

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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 Apr 08, 2021