NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) AND Familial hypercholesterolemia 1

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Nov 5, 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:
RCV000237302.2

Allele description [Variation Report for NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)]

NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)

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.676T>C (p.Ser226Pro)
HGVS:
  • NC_000019.10:g.11105582T>C
  • NG_009060.1:g.21202T>C
  • NM_000527.4:c.676T>C
  • NM_000527.5:c.676T>CMANE SELECT
  • NM_001195798.2:c.676T>C
  • NM_001195799.2:c.553T>C
  • NM_001195800.2:c.314-1810T>C
  • NM_001195803.2:c.314-983T>C
  • NP_000518.1:p.Ser226Pro
  • NP_000518.1:p.Ser226Pro
  • NP_001182727.1:p.Ser226Pro
  • NP_001182728.1:p.Ser185Pro
  • LRG_274t1:c.676T>C
  • LRG_274:g.21202T>C
  • NC_000019.9:g.11216258T>C
  • P01130:p.Ser226Pro
  • c.676T>C
Protein change:
S185P
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001808; UniProtKB: P01130#VAR_005337; dbSNP: rs879254635
NCBI 1000 Genomes Browser:
rs879254635
Molecular consequence:
  • NM_001195800.2:c.314-1810T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-983T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.553T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000294894LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000540750Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation

See additional submitters

criteria provided, single submitter
Likely pathogenic
(Nov 5, 2016)
inheritedclinical testing

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

SCV000607490Fundacion 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 providedgermlineyes4not providednot provided4not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
Caucasianinheritedyes22not provided3964not providedclinical testing

Citations

PubMed

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

Bochmann H, Geisel J, Herrmann W, Purcz T, Reuter W, Julius U, Metzler W, Bergmann S, Jaross W, Gehrisch S.

Hum Mutat. 2001;17(1):76-7.

PubMed [citation]
PMID:
11139254

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

García-García AB, Real JT, Puig O, Cebolla E, Marín-García P, Martínez Ferrandis JI, García-Sogo M, Civera M, Ascaso JF, Carmena R, Armengod ME, Chaves FJ.

Hum Mutat. 2001 Nov;18(5):458-9.

PubMed [citation]
PMID:
11668640
See all PubMed Citations (6)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294894.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (4)
2not provided1not providednot providedliterature only PubMed (4)
3not provided1not providednot providedliterature only PubMed (4)
4not provided1not providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided
4germlineyes1not providednot provided1not providednot providednot provided

From Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation, SCV000540750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian2not providednot providedclinical testing PubMed (2)

Description

Disrupt SDE motif. SDE bind structural Ca2+.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes3964Whole bloodnot provided2not provided2not provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607490.1

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

Description

"Hmz patients' fibroblasts, 125I-LDL 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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