NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) AND Familial hypercholesterolemia 1

Clinical significance:Pathogenic/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:
3 submissions [Details]
Record status:
current
Accession:
RCV000237805.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)]

NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)

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.1136G>A (p.Cys379Tyr)
HGVS:
  • NC_000019.10:g.11111589G>A
  • NG_009060.1:g.27209G>A
  • NM_000527.4:c.1136G>A
  • NM_000527.5:c.1136G>AMANE SELECT
  • NM_001195798.2:c.1136G>A
  • NM_001195799.2:c.1013G>A
  • NM_001195800.2:c.632G>A
  • NM_001195803.2:c.755G>A
  • NP_000518.1:p.Cys379Tyr
  • NP_000518.1:p.Cys379Tyr
  • NP_001182727.1:p.Cys379Tyr
  • NP_001182728.1:p.Cys338Tyr
  • NP_001182729.1:p.Cys211Tyr
  • NP_001182732.1:p.Cys252Tyr
  • LRG_274t1:c.1136G>A
  • LRG_274:g.27209G>A
  • NC_000019.9:g.11222265G>A
  • P01130:p.Cys379Tyr
  • c.1136G>A
Protein change:
C211Y
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000364; UniProtKB: P01130#VAR_007986; dbSNP: rs879254804
NCBI 1000 Genomes Browser:
rs879254804
Molecular consequence:
  • NM_000527.4:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.632G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.755G>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
SCV000295243LDLR-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,

SCV000606335Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

SCV000607565Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Pathogenic
(Mar 1, 2016)
germlineresearch

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

Summary from all submissions

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

Citations

PubMed

Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

Hirayama T, Yamaki E, Hata A, Tsuji M, Hashimoto K, Yamamoto M, Emi M.

J Hum Genet. 1998;43(4):250-4.

PubMed [citation]
PMID:
9852677
See all PubMed Citations (4)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295243.2

#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 Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606335.1

#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, SCV000607565.1

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

Description

"Heterologous cells (COS-1), 125I 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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