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.1942T>C (p.Ser648Pro)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 14, 2016)
Last evaluated:
Mar 25, 2016
Accession:
VCV000252120.1
Variation ID:
252120
Description:
single nucleotide variant
Help

NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro)

Allele ID
246416
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11120188 (GRCh38) GRCh38 UCSC
19: 11230864 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11120188T>C
NC_000019.9:g.11230864T>C
NM_000527.5:c.1942T>C MANE Select NP_000518.1:p.Ser648Pro missense
... more HGVS
Protein change
S648P, S480P, S607P, S521P
Other names
-
Canonical SPDI
NC_000019.10:11120187:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585687
LDLR-LOVD, British Heart Foundation: LDLR_001557
dbSNP: rs879255079
VarSome
Help

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 RCV000237722.2
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
3089 3289

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: SCV000295762.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (1)
Likely 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: SCV000322990.1
Submitted: (Oct 14, 2016)
Evidence details
Comment:
0/200 non-FH alleles

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
In vitro functional characterization of missense mutations in the LDLR gene. Silva S Atherosclerosis 2012 PMID: 23021490

Text-mined citations for rs879255079...

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