FH Vancouver 4 AND Familial hypercholesterolemia 1

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Mar 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000003907.9

Allele description [Variation Report for FH Vancouver 4]

FH Vancouver 4

Genes:
LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
FH Vancouver 4
Other names:
FH Vancouver 5; FH Vancouver-5; FH Vancouver-4
HGVS:
  • NC_000019.10:g.(11089616_11100222)_(11107515_11110651)del
  • NG_009060.1:g.(5236_15842)_(23135_26271)del
  • NM_000527.4:c.68-?_940+?del
  • LRG_274t1:c.68-?_940+?del
  • LRG_274:g.(5236_15842)_(23135_26271)del
  • NC_000019.9:g.(11200292_11210898)_(11218191_11221327)del
  • c.(67+1_68-1)_(940+1_941-1)del
Note:
Deletion of exons 2 through 6 plus flanking intronic sequences from NG_009060.1 (LDLR).
Nucleotide change:
EX2-6DEL
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001310; dbVar: nssv7487151; dbVar: nsv1197559; OMIM: 606945.0030
Observations:
6

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024072OMIMno assertion criteria providedPathogenic
(Nov 28, 2017)
germlineliterature only

Langlois, S. Personal Communication. 1989. Vancouver, British Columbia, Canada,

SCV000268671Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospitalno assertion criteria providedPathogenic
(Jul 7, 2008)
germlineclinical testing

SCV000294441LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Pathogenic
(Mar 25, 2016)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000607410Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Uncertain significance
(Mar 1, 2016)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes6not providednot provided3not providedclinical testing, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

Sun XM, Webb JC, Gudnason V, Humphries S, Seed M, Thompson GR, Knight BL, Soutar AK.

Arterioscler Thromb. 1992 Jul;12(7):762-70.

PubMed [citation]
PMID:
1319734

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).

Langlois S, Kastelein JJ, Hayden MR.

Am J Hum Genet. 1988 Jul;43(1):60-8.

PubMed [citation]
PMID:
2837085
PMCID:
PMC1715276
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000024072.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

Langlois et al. (1988) found 2 instances of deletion of exons 2-6.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268671.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences

From LDLR-LOVD, British Heart Foundation, SCV000294441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (2)
2not provided1not providednot providedliterature only PubMed (2)
3not provided1not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607410.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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