NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) AND Familial hypercholesterolemia 1

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Mar 30, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000237755.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)]

NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
Other names:
FH-Skjetten; NP_000518.1:p.W562*
HGVS:
  • NC_000019.10:g.11116193G>A
  • NG_009060.1:g.31813G>A
  • NM_000527.4:c.1686G>A
  • NM_000527.5:c.1686G>AMANE SELECT
  • NM_001195798.2:c.1686G>A
  • NM_001195799.2:c.1563G>A
  • NM_001195800.2:c.1182G>A
  • NM_001195803.2:c.1305G>A
  • NP_000518.1:p.Trp562Ter
  • NP_000518.1:p.Trp562Ter
  • NP_001182727.1:p.Trp562Ter
  • NP_001182728.1:p.Trp521Ter
  • NP_001182729.1:p.Trp394Ter
  • NP_001182732.1:p.Trp435Ter
  • LRG_274t1:c.1686G>A
  • LRG_274:g.31813G>A
  • LRG_274p1:p.Trp562Ter
  • NC_000019.9:g.11226869G>A
  • c.1686G>A
Protein change:
W394*
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000417; dbSNP: rs879254985
NCBI 1000 Genomes Browser:
rs879254985
Molecular consequence:
  • NM_000527.4:c.1686G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000527.5:c.1686G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.1686G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195799.2:c.1563G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.1182G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.1305G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000295576LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000484715Robarts Research Institute,Western Universitycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

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

SCV000583861U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lillecriteria provided, single submitter
Pathogenic
(Mar 30, 2017)
germlineclinical testing

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

SCV000607622Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Pathogenic
(Mar 1, 2016)
germlineresearch

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

Description

ACMG Guidelines: Pathogenic (i)

SCV000583861

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes41not provided2not providedclinical testing, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.

Hum Mutat. 2004 Aug;24(2):187.

PubMed [citation]
PMID:
15241806

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

Leren TP, Sundvold H, Rødningen OK, Tonstad S, Solberg K, Ose L, Berg K.

Hum Genet. 1995 Jun;95(6):671-6. Erratum in: Hum Genet 1996 Feb;97(2):268.

PubMed [citation]
PMID:
7789953
See all PubMed Citations (5)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295576.2

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

From Robarts Research Institute,Western University, SCV000484715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Definite FH

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607622.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
2not providednot providednot providednot providedresearch PubMed (2)

Description

"Htz patients'Epstein-Barr transformed lymphocytes, FACS and RNA assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 23, 2020

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