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NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 10, 2020
Accession:
VCV000251514.3
Variation ID:
251514
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)

Allele ID
245847
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11107476 (GRCh38) GRCh38 UCSC
19: 11218152 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11107476A>G
NC_000019.9:g.11218152A>G
NM_000527.5:c.902A>G MANE Select NP_000518.1:p.Asp301Gly missense
... more HGVS
Protein change
D301G, D260G, D133G, D174G
Other names
FH Greece-3
Canonical SPDI
NC_000019.10:11107475:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585185
LDLR-LOVD, British Heart Foundation: LDLR_001860
UniProtKB: P01130#VAR_072840
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 4 criteria provided, multiple submitters, no conflicts Mar 25, 2016 RCV000238358.4
Pathogenic 1 criteria provided, single submitter Jan 10, 2020 RCV001233629.2
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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: SCV000295041.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (3)
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: HipercolBrasil
Accession: SCV000588526.1
Submitted: (Aug 04, 2017)
Evidence details
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607519.1
Submitted: (Apr 20, 2017)
Evidence details
Pathogenic
(Jan 10, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Invitae
Accession: SCV001406233.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces aspartic acid with glycine at codon 301 of the LDLR protein (p.Asp301Gly). The aspartic acid residue is highly conserved and there … (more)
Pathogenic
(-)
no assertion criteria provided
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum
Accession: SCV000606261.1
Submitted: (Apr 25, 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
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. Etxebarria A Atherosclerosis 2015 PMID: 25545329
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. Jannes CE Atherosclerosis 2015 PMID: 25461735
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. Mollaki V Atherosclerosis 2014 PMID: 25463123
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Fouchier SW Human mutation 2005 PMID: 16250003
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Mozas P Human mutation 2004 PMID: 15241806
Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Yu W Atherosclerosis 2002 PMID: 12417285
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
A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation. Mavroidis N Human mutation 1997 PMID: 9090532

Record last updated May 10, 2021