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GRCh37/hg19 12q24.21(chr12:115109877-115120812)x4

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 7, 2016)
Last evaluated:
Jul 20, 2015
Accession:
VCV000221493.1
Variation ID:
221493
Description:
10.9kb copy number gain
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GRCh37/hg19 12q24.21(chr12:115109877-115120812)x4

Allele ID
223222
Variant type
copy number gain
Variant length
10,936 bp
Cytogenetic location
12q24.21
Genomic location
12: 115109877-115120812 (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 no assertion criteria provided Jul 20, 2015 RCV000207219.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
129 198

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 20, 2015)
no assertion criteria provided
Method: research
Ductal breast carcinoma
Male breast cancer
Allele origin: somatic
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc.
Accession: SCV000258843.1
Submitted: (Jan 07, 2016)
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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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 May 06, 2021