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NM_014780.4(CUL7):c.861G>A (p.Gly287=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 20, 2020
Accession:
VCV000260442.5
Variation ID:
260442
Description:
single nucleotide variant
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NM_014780.4(CUL7):c.861G>A (p.Gly287=)

Allele ID
252371
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.1
Genomic location
6: 43051340 (GRCh38) GRCh38 UCSC
6: 43019078 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.43019078C>T
NC_000006.12:g.43051340C>T
NM_001168370.1:c.1113G>A NP_001161842.1:p.Gly371= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:43051339:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00145
The Genome Aggregation Database (gnomAD) 0.00083
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00169
The Genome Aggregation Database (gnomAD), exomes 0.00149
Exome Aggregation Consortium (ExAC) 0.00133
1000 Genomes Project 0.00100
Links
ClinGen: CA3814283
dbSNP: rs61750322
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 25, 2016 RCV000247159.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000398520.2
Benign 1 criteria provided, single submitter Sep 20, 2020 RCV000898634.3
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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
301 314

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312218.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Aug 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343535.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Three M syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000463423.3
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)
Benign
(Sep 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001042850.3
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 rs61750322...

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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 23, 2021