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NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Apr 20, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000250982.1
Variation ID:
250982
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)

Allele ID
245348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11089595 (GRCh38) GRCh38 UCSC
19: 11200271 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11089595T>C
NC_000019.9:g.11200271T>C
NM_000527.5:c.47T>C MANE Select NP_000518.1:p.Leu16Pro missense
... more HGVS
Protein change
L16P
Other names
-
Canonical SPDI
NC_000019.10:11089594:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10584733
LDLR-LOVD, British Heart Foundation: LDLR_001743
dbSNP: rs879254391
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 25, 2016 RCV000237870.1
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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
3086 3286
LDLR-AS1 - - - GRCh38 - 148

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: SCV000294423.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607406.1
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
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Alonso R Clinical biochemistry 2009 PMID: 19318025

Text-mined citations for rs879254391...

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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 Sep 14, 2020