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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 20, 2017)
Last evaluated:
Nov 5, 2016
Accession:
VCV000251384.1
Variation ID:
251384
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)

Allele ID
245722
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11105582 (GRCh38) GRCh38 UCSC
19: 11216258 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11105582T>C
NC_000019.9:g.11216258T>C
NM_000527.5:c.676T>C MANE Select NP_000518.1:p.Ser226Pro missense
... more HGVS
Protein change
S226P, S185P
Other names
-
Canonical SPDI
NC_000019.10:11105581:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585073
LDLR-LOVD, British Heart Foundation: LDLR_001808
UniProtKB: P01130#VAR_005337
dbSNP: rs879254635
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Nov 5, 2016 RCV000237302.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDLR Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3087 3287

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 25, 2016)
criteria provided, single submitter
Method: literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
LDLR-LOVD, British Heart Foundation
Accession: SCV000294894.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (4)
Likely pathogenic
(Nov 05, 2016)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
(Autosomal dominant inheritance)
Allele origin: inherited
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation
Additional submitter:
Centre of Molecular Biology and Gene Therapy,University Hospital Brno
Accession: SCV000540750.1
Submitted: (Mar 30, 2017)
Evidence details
Comment:
Disrupt SDE motif. SDE bind structural Ca2+.
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607490.1
Submitted: (Apr 20, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. Tichý L Atherosclerosis 2012 PMID: 22698793
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. Dušková L Atherosclerosis 2011 PMID: 21310417
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis. García-García AB Human mutation 2001 PMID: 11668640
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig. Bochmann H Human mutation 2001 PMID: 11139254
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hobbs HH Human mutation 1992 PMID: 1301956

Text-mined citations for rs879254635...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 29, 2020