NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) AND Familial hypercholesterolemia 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(2) (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:
RCV000237149.2

Allele description [Variation Report for NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)]

NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)

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.284G>A (p.Cys95Tyr)
HGVS:
  • NC_000019.10:g.11102757G>A
  • NG_009060.1:g.18377G>A
  • NM_000527.4:c.284G>A
  • NM_000527.5:c.284G>AMANE SELECT
  • NM_001195798.2:c.284G>A
  • NM_001195799.2:c.190+2412G>A
  • NM_001195800.2:c.284G>A
  • NM_001195803.2:c.284G>A
  • NP_000518.1:p.Cys95Tyr
  • NP_000518.1:p.Cys95Tyr
  • NP_001182727.1:p.Cys95Tyr
  • NP_001182729.1:p.Cys95Tyr
  • NP_001182732.1:p.Cys95Tyr
  • LRG_274t1:c.284G>A
  • LRG_274:g.18377G>A
  • NC_000019.9:g.11213433G>A
  • c.284G>A
Protein change:
C95Y
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001679; dbSNP: rs879254457
NCBI 1000 Genomes Browser:
rs879254457
Molecular consequence:
  • NM_001195799.2:c.190+2412G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.284G>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294578LDLR-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,

SCV000607440Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Uncertain significance
(Mar 1, 2016)
germlineresearch

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

SCV000748081Iberoamerican FH Networkcriteria provided, single submitter
Uncertain significance
(Mar 1, 2016)
germlineresearch

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

Description

Variant present in the database from Argentina

SCV000748081

Summary from all submissions

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

Citations

PubMed

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19318025

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S, Pisciotta L, Rabacchi C, Cefal├╣ AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.

Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19.

PubMed [citation]
PMID:
23375686
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294578.2

#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 Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Iberoamerican FH Network, SCV000748081.1

#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: Aug 29, 2020

Support Center