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NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Mar 25, 2016
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:
RCV000237969.1

Allele description [Variation Report for NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)]

NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)

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.267C>G (p.Cys89Trp)
HGVS:
  • NC_000019.10:g.11102740C>G
  • NG_009060.1:g.18360C>G
  • NM_000527.5:c.267C>GMANE SELECT
  • NM_001195798.2:c.267C>G
  • NM_001195799.2:c.190+2395C>G
  • NM_001195800.2:c.267C>G
  • NM_001195803.2:c.267C>G
  • NP_000518.1:p.Cys89Trp
  • NP_000518.1:p.Cys89Trp
  • NP_001182727.1:p.Cys89Trp
  • NP_001182729.1:p.Cys89Trp
  • NP_001182732.1:p.Cys89Trp
  • LRG_274t1:c.267C>G
  • LRG_274:g.18360C>G
  • LRG_274p1:p.Cys89Trp
  • NC_000019.9:g.11213416C>G
  • NM_000527.4:c.267C>G
  • c.267C>G
Protein change:
C89W
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000040; dbSNP: rs777640882
NCBI 1000 Genomes Browser:
rs777640882
Molecular consequence:
  • NM_001195799.2:c.190+2395C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294568LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000607437Fundacion Hipercolesterolemia Familiar - SAFEHEART
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided3not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294568.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (3)
2not provided1not providednot providedliterature only PubMed (3)
3not provided1not providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607437.1

#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 1, 2024