Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 25, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000251686.1
Variation ID:
251686
Description:
single nucleotide variant
Help

NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)

Allele ID
246009
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11111589 (GRCh38) GRCh38 UCSC
19: 11222265 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11111589G>A
NC_000019.9:g.11222265G>A
NM_000527.5:c.1136G>A MANE Select NP_000518.1:p.Cys379Tyr missense
... more HGVS
Protein change
C379Y, C211Y, C252Y, C338Y
Other names
-
Canonical SPDI
NC_000019.10:11111588:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585325
LDLR-LOVD, British Heart Foundation: LDLR_000364
UniProtKB: P01130#VAR_007986
dbSNP: rs879254804
Varsome
Help

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 Mar 25, 2016 RCV000237805.2
Help
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

Submitted interpretations and evidence

Help
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: SCV000295243.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (2)
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607565.1
Submitted: (Apr 20, 2017)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum
Accession: SCV000606335.1
Submitted: (Apr 25, 2017)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
A single point mutation in the low-density lipoprotein receptor switches the degradation of its mature protein from the proteasome to the lysosome. Martín de Llano JJ The international journal of biochemistry & cell biology 2006 PMID: 16530458
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. Chaves FJ The Journal of clinical endocrinology and metabolism 2001 PMID: 11600564
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. Hirayama T Journal of human genetics 1998 PMID: 9852677

Text-mined citations for rs879254804...

Help
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