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NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 17, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000251336.1
Variation ID:
251336
Description:
3bp deletion
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NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)

Allele ID
245674
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
19p13.2
Genomic location
19: 11105538-11105540 (GRCh38) GRCh38 UCSC
19: 11216214-11216216 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11105538_11105540del
NC_000019.9:g.11216214_11216216del
NM_000527.5:c.632_634del MANE Select NP_000518.1:p.His211_Ser212delinsPro
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:11105537:ACT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585026
LDLR-LOVD, British Heart Foundation: LDLR_001779
dbSNP: rs879254602
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 25, 2016 RCV000238022.2
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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
3089 3289

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: SCV000294835.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: curation, literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline, not applicable
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge
Accession: SCV000599338.1
Submitted: (Apr 17, 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
Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. Sun XM Arteriosclerosis and thrombosis : a journal of vascular biology 1994 PMID: 7903864

Text-mined citations for rs879254602...

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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