NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) AND Familial hypercholesterolemia 1

Clinical significance:Uncertain significance (Last evaluated: Mar 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000238240.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)]

NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)

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.2411T>C (p.Leu804Pro)
HGVS:
  • NC_000019.10:g.11129534T>C
  • NG_009060.1:g.45154T>C
  • NM_000527.4:c.2411T>C
  • NM_000527.5:c.2411T>CMANE SELECT
  • NM_001195798.2:c.2411T>C
  • NM_001195799.2:c.2288T>C
  • NM_001195800.2:c.1907T>C
  • NM_001195803.2:c.1877T>C
  • NP_000518.1:p.Leu804Pro
  • NP_000518.1:p.Leu804Pro
  • NP_001182727.1:p.Leu804Pro
  • NP_001182728.1:p.Leu763Pro
  • NP_001182729.1:p.Leu636Pro
  • NP_001182732.1:p.Leu626Pro
  • LRG_274t1:c.2411T>C
  • LRG_274:g.45154T>C
  • LRG_274p1:p.Leu804Pro
  • NC_000019.9:g.11240210T>C
  • c.2411T>C
Protein change:
L626P
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001087; dbSNP: rs879255203
NCBI 1000 Genomes Browser:
rs879255203
Molecular consequence:
  • NM_000527.4:c.2411T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.2411T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2411T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.2288T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1877T>C - 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
SCV000295998LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Uncertain significance
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000606646Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC.

Hum Mutat. 2005 Dec;26(6):550-6.

PubMed [citation]
PMID:
16250003

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295998.2

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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606646.1

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

Last Updated: Sep 6, 2021

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