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Single allele

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Apr 18, 2021
Most recent Submission:
Apr 18, 2021
Last evaluated:
Apr 16, 2021
Accession:
VCV001064533.1
Variation ID:
1064533
Description:
3.8Mb deletion
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Single allele

Allele ID
1052723
Variant type
Deletion
Variant length
3,761,168 bp
Cytogenetic location
3p14.1-13
Genomic location
3: 68939251-72700418 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.(68939251_68965654)_(72679568_72700418)del
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
Pathogenic 1 no assertion criteria provided Apr 16, 2021 RCV001374461.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FOXP1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
603 663
MITF Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
493 516
ARL6IP5 - - GRCh38
GRCh37
3 22
EIF4E3 - - GRCh38
GRCh37
8 49
EOGT - - GRCh38
GRCh37
195 210
FOXP1-IT1 - - - GRCh37 - 18
FRMD4B - - GRCh38
GRCh37
34 48
GPR27 - - GRCh38
GRCh37
6 47
LMOD3 - - GRCh38
GRCh37
307 389
PROK2 - - GRCh38
GRCh37
43 63

There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Apr 16, 2021)
no assertion criteria provided
Method: clinical testing
See cases
Affected status: yes
Allele origin: not-reported
Daryl Scott Lab,Baylor College of Medicine
Accession: SCV001571333.1
First in ClinVar: Apr 18, 2021
Last updated: Apr 18, 2021
Clinical Features:
Congenital diaphragmatic hernia (present) , Atrial septal defect (present) , Developmental dysplasia of the hip (present) , Horseshoe kidney (present) , Failure to thrive (present) … (more)
Age: 0-9 years
Sex: male
Ethnicity/Population group: Ashkenazi Jewish
Testing laboratory: Claritas Genomics
Date variant was reported to submitter: 2013-11-25
Testing laboratory interpretation: Pathogenic

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 Mar 26, 2023