NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) AND Familial hypercholesterolemia 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Likely pathogenic(1) (Last evaluated: Mar 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000238242.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys)]

NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys)

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.1301C>A (p.Thr434Lys)
Other names:
FH Algeria-3
HGVS:
  • NC_000019.10:g.11113392C>A
  • NG_009060.1:g.29012C>A
  • NM_000527.4:c.1301C>A
  • NM_000527.5:c.1301C>AMANE SELECT
  • NM_001195798.2:c.1301C>A
  • NM_001195799.2:c.1178C>A
  • NM_001195800.2:c.797C>A
  • NM_001195803.2:c.920C>A
  • NP_000518.1:p.Thr434Lys
  • NP_000518.1:p.Thr434Lys
  • NP_001182727.1:p.Thr434Lys
  • NP_001182728.1:p.Thr393Lys
  • NP_001182729.1:p.Thr266Lys
  • NP_001182732.1:p.Thr307Lys
  • LRG_274t1:c.1301C>A
  • LRG_274:g.29012C>A
  • NC_000019.9:g.11224068C>A
  • P01130:p.Thr434Lys
  • c.1301C>A
Protein change:
T266K
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001392; UniProtKB: P01130#VAR_005386; dbSNP: rs745343524
NCBI 1000 Genomes Browser:
rs745343524
Molecular consequence:
  • NM_000527.4:c.1301C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1301C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1301C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1178C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.797C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.920C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000295352LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely benign
(Mar 25, 2016)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000606387Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

SCV000607583Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided3not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M.

Hum Mutat. 1998;11(5):413.

PubMed [citation]
PMID:
10206683

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP.

Hum Genet. 2001 Dec;109(6):602-15. Epub 2001 Nov 9.

PubMed [citation]
PMID:
11810272
See all PubMed Citations (4)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295352.2

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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607583.1

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

Description

"Comp htz (with p.(Gln33Hisfs*173)) patients' fibroblasts, 125I-LDL assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 29, 2020

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