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NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 25, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000238270.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr)]

NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr)

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.1754T>C (p.Ile585Thr)
HGVS:
  • NC_000019.10:g.11116907T>C
  • NG_009060.1:g.32527T>C
  • NM_000527.5:c.1754T>CMANE SELECT
  • NM_001195798.2:c.1754T>C
  • NM_001195799.2:c.1631T>C
  • NM_001195800.2:c.1250T>C
  • NM_001195803.2:c.1373T>C
  • NP_000518.1:p.Ile585Thr
  • NP_001182727.1:p.Ile585Thr
  • NP_001182728.1:p.Ile544Thr
  • NP_001182729.1:p.Ile417Thr
  • NP_001182732.1:p.Ile458Thr
  • LRG_274:g.32527T>C
  • NC_000019.9:g.11227583T>C
  • P01130:p.Ile585Thr
  • c.1754T>C
Protein change:
I417T
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001233; UniProtKB: P01130#VAR_072855; dbSNP: rs879255012
NCBI 1000 Genomes Browser:
rs879255012
Molecular consequence:
  • NM_000527.5:c.1754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1631T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1250T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1373T>C - 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
SCV000295640LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

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

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

Widhalm K, Dirisamer A, Lindemayr A, Kostner G.

J Inherit Metab Dis. 2007 Apr;30(2):239-47. Epub 2007 Mar 8.

PubMed [citation]
PMID:
17347910

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295640.2

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

Last Updated: Aug 5, 2023