NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 25, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000237376.2

Allele description [Variation Report for NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)]

NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)

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.401G>T (p.Cys134Phe)
Other names:
FH Alessandria
HGVS:
  • NC_000019.10:g.11105307G>T
  • NG_009060.1:g.20927G>T
  • NM_000527.4:c.401G>T
  • NM_000527.5:c.401G>TMANE SELECT
  • NM_001195798.2:c.401G>T
  • NM_001195799.2:c.278G>T
  • NM_001195800.2:c.314-2085G>T
  • NM_001195803.2:c.314-1258G>T
  • NP_000518.1:p.Cys134Phe
  • NP_000518.1:p.Cys134Phe
  • NP_001182727.1:p.Cys134Phe
  • NP_001182728.1:p.Cys93Phe
  • LRG_274t1:c.401G>T
  • LRG_274:g.20927G>T
  • LRG_274p1:p.Cys134Phe
  • NC_000019.9:g.11215983G>T
  • P01130:p.Cys134Phe
  • c.401G>T
Protein change:
C134F
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001725; UniProtKB: P01130#VAR_062371; dbSNP: rs879254514
NCBI 1000 Genomes Browser:
rs879254514
Molecular consequence:
  • NM_001195800.2:c.314-2085G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1258G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.278G>T - 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
SCV000294687LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000748130Iberoamerican FH Networkcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

Description

Variant present in the database from Uruguay

SCV000748130

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
not providedgermlineyes2not providednot provided2not providedliterature only

Citations

PubMed

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, Pes G, Postiglione A, Stefanutti C, Blotta I, Pisciotta L, Rolleri M, Langheim S, Ghisellini M, Rabbone I, Calandra S.

Arterioscler Thromb Vasc Biol. 2000 Sep;20(9):E41-52.

PubMed [citation]
PMID:
10978268

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

Nauck MS, Köster W, Dörfer K, Eckes J, Scharnagl H, Gierens H, Nissen H, Nauck MA, Wieland H, März W.

Hum Mutat. 2001 Aug;18(2):165-6.

PubMed [citation]
PMID:
11462246
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294687.2

#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 Iberoamerican FH Network, SCV000748130.1

#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: May 10, 2021

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