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NM_000527.5(LDLR):c.828C>T (p.Cys276=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000440606.5
Variation ID:
440606
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.828C>T (p.Cys276=)

Allele ID
434257
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11107402 (GRCh38) GRCh38 UCSC
19: 11218078 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11107402C>T
NG_009060.1:g.23022C>T
NM_000527.5:c.828C>T MANE Select NP_000518.1:p.Cys276= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:11107401:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00025
Trans-Omics for Precision Medicine (TOPMed) 0.00093
Exome Aggregation Consortium (ExAC) 0.00032
The Genome Aggregation Database (gnomAD) 0.00089
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00091
The Genome Aggregation Database (gnomAD) 0.00096
1000 Genomes Project 0.00120
Links
ClinGen: CA029790
dbSNP: rs146651743
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 25, 2020 RCV000771187.3
Benign 1 no assertion criteria provided - RCV000508895.1
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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
3093 3293

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000903168.1
Submitted: (Nov 06, 2018)
Evidence details
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Invitae
Accession: SCV001003867.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum
Accession: SCV000606242.1
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs146651743...

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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 Dec 04, 2021