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FH Vancouver 4

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Apr 20, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000003712.2
Variation ID:
3712
Description:
7.3kb deletion
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FH Vancouver 4

Allele ID
18751
Variant type
Deletion
Variant length
7,294 bp
Cytogenetic location
19p13.2
Genomic location
19: 11089616-11110651 (GRCh38) GRCh38 UCSC
19: 11200292-11221327 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.(11089616_11100222)_(11107515_11110651)del
NC_000019.9:g.(11200292_11210898)_(11218191_11221327)del
NM_000527.4:c.68-?_940+?del
... more HGVS
Protein change
-
Other names
FH Vancouver 5
FH Vancouver-5
FH Vancouver-4
EX2-6DEL
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
LDLR-LOVD, British Heart Foundation: LDLR_001310
dbVar: nssv7487151
dbVar: nsv1197559
OMIM: 606945.0030
Varsome
Comment on variant
Deletion of exons 2 through 6 plus flanking intronic sequences from NG_009060.1 (LDLR).
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Mar 25, 2016 RCV000003907.9
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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
3087 3287
LDLR-AS1 - - - GRCh38 - 148

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: SCV000294441.1
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607410.1
Submitted: (Apr 20, 2017)
Evidence details
Pathogenic
(Jul 07, 2008)
no assertion criteria provided
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital
Accession: SCV000268671.1
Submitted: (May 09, 2016)
Evidence details
Pathogenic
(Nov 28, 2017)
no assertion criteria provided
Method: literature only
FH VANCOUVER 4
Allele origin: germline
OMIM
Accession: SCV000024072.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
Langlois, S. Personal  (more...)

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
Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Sun XM Arteriosclerosis and thrombosis : a journal of vascular biology 1992 PMID: 1319734
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 Aug 27, 2021