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FH Vancouver 6

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 28, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000251146.1
Variation ID:
251146
Description:
deletion
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FH Vancouver 6

Allele ID
246684
Variant type
Deletion
Variant length
-
Cytogenetic location
19p13.2
Genomic location
19: 11213463-11221327 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
FH Valencia-4
FH Vancouver-6
FH Petersburg
Valencia-4
EX4-6DEL
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
LDLR-LOVD, British Heart Foundation: LDLR_001299
OMIM: 606945.0036
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Mar 25, 2016 RCV000238046.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDLR Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2536 2696

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 25, 2016)
criteria provided, single submitter
Method: literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
LDLR-LOVD, British Heart Foundation
Accession: SCV000294620.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (4)
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Iberoamerican FH Network
Accession: SCV000748129.1
Submitted: (Jul 28, 2017)
Comment:
Variant present in the database from Uruguay
Evidence details
Pathogenic
(Nov 28, 2017)
no assertion criteria provided
Method: literature only
FH VANCOUVER 6
Allele origin: germline
OMIM
Accession: SCV000024081.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
Langlois, S. Personal  (more...)

Citations for this variant

Title Author Journal Year Link
The molecular basis of familial hypercholesterolemia in The Netherlands. Fouchier SW Human genetics 2001 PMID: 11810272
Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population. Chaves FJ European journal of clinical investigation 2001 PMID: 11298777
A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg. Mandelshtam MJ Human mutation 1993 PMID: 8401534
Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). Langlois S American journal of human genetics 1988 PMID: 2837085
Langlois, S. Personal Communication. 1989. Vancouver, British Columbia, Canada - - - -

Record last updated Jan 26, 2020