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NM_001195800.2(LDLR):c.314-1825G>T

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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:
Mar 25, 2016
Accession:
VCV000251356.1
Variation ID:
251356
Description:
single nucleotide variant
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NM_001195800.2(LDLR):c.314-1825G>T

Allele ID
245694
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11105567 (GRCh38) GRCh38 UCSC
19: 11216243 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11105567G>T
NC_000019.9:g.11216243G>T
NM_000527.4:c.661G>T NP_000518.1:p.Asp221Tyr missense
... more HGVS
Protein change
D221Y
Other names
FH Finn-3
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
LDLR-LOVD, British Heart Foundation: LDLR_001792
UniProtKB: P01130#VAR_005333
dbSNP: rs875989906
ClinGen: CA10585046
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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 Mar 25, 2016 RCV000237890.2
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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
2536 2696

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: research, literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
LDLR-LOVD, British Heart Foundation
Accession: SCV000294861.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (6)
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge
Accession: SCV000322907.1
Submitted: (Oct 14, 2016)
Evidence details
Comment:
0/190 non-FH alleles; 0/50 normolipidemic individuals
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607480.1
Submitted: (Apr 20, 2017)
Evidence details

Citations for this variant

Title Author Journal Year Link
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Bertolini S Atherosclerosis 2013 PMID: 23375686
Familial hypercholesterolaemia in Portugal. Bourbon M Atherosclerosis 2008 PMID: 17765246
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online. Cenarro A Human mutation 1998 PMID: 10206683
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians. Kotze MJ Clinical genetics 1997 PMID: 9237502
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. Giesel J Human genetics 1995 PMID: 7649546
Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene. Koivisto UM American journal of human genetics 1995 PMID: 7573037

Record last updated Jan 18, 2020