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NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Feb 15, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000211576.9

Allele description [Variation Report for NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)]

NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)

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.246C>A (p.Cys82Ter)
HGVS:
  • NC_000019.10:g.11102719C>A
  • NG_009060.1:g.18339C>A
  • NM_000527.5:c.246C>AMANE SELECT
  • NM_001195798.2:c.246C>A
  • NM_001195799.2:c.190+2374C>A
  • NM_001195800.2:c.246C>A
  • NM_001195803.2:c.246C>A
  • NP_000518.1:p.Cys82Ter
  • NP_000518.1:p.Cys82Ter
  • NP_001182727.1:p.Cys82Ter
  • NP_001182729.1:p.Cys82Ter
  • NP_001182732.1:p.Cys82Ter
  • LRG_274t1:c.246C>A
  • LRG_274:g.18339C>A
  • LRG_274p1:p.Cys82Ter
  • NC_000019.9:g.11213395C>A
  • NM_000527.4:c.246C>A
  • c.246C>A
Protein change:
C82*
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000983; dbSNP: rs875989891
NCBI 1000 Genomes Browser:
rs875989891
Molecular consequence:
  • NM_001195799.2:c.190+2374C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.246C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.246C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.246C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.246C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hypercholesterolemia, familial, 1
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268544Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital
no assertion criteria provided
Pathogenic
(Feb 9, 2012) 		germlineclinical testing

SCV000294553LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Pathogenic
(Mar 25, 2016) 		germlineliterature only

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

Citation Link,

SCV000540720Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 5, 2016) 		unknownclinical testing

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

SCV003827147Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 15, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided1not providedclinical testing, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Caucasianunknownyes11not provided3964yesclinical testing

Citations

PubMed

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2012 Aug;223(2):401-8. doi: 10.1016/j.atherosclerosis.2012.05.014. Epub 2012 May 23.

PubMed [citation]
PMID:
22698793

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováĉková R, Kozák L, Slováková R.

Hum Mutat. 2002 Jan;19(1):80.

PubMed [citation]
PMID:
11754108
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268544.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences

From LDLR-LOVD, British Heart Foundation, SCV000294553.2

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

From Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, SCV000540720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providedyesclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes3964Whole bloodnot provided1not provided1not provided

From Revvity Omics, Revvity, SCV003827147.2

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

Last Updated: Mar 16, 2024