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Single allele

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Sep 9, 2019
Most recent Submission:
Sep 9, 2019
Last evaluated:
Jan 26, 2018
Accession:
VCV000689362.1
Variation ID:
689362
Description:
tandem duplication
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Single allele

Allele ID
676954
Variant type
Tandem duplication
Variant length
-
Cytogenetic location
9q34.13
Genomic location
9: 135803187-135807265 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 26, 2018 RCV000850068.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4009 4059

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 26, 2018)
criteria provided, single submitter
Method: research
Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin: germline
Academic Department of Medical Genetics, University of Cambridge
Accession: SCV000992234.1
First in ClinVar: Sep 09, 2019
Last updated: Sep 09, 2019
Comment:
Identified as part of research study of individuals with multiple primary tumours referred for genetic assessment
Clinical Features:
Testicular seminoma (present) , Malignant tumor of prostate (present) , Squamous cell lung carcinoma (present)
Zygosity: 1 Single Heterozygote

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Nov 05, 2022