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_000527.4(LDLR):c.2089G>A (p.Ala697Thr)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 19, 2020)
Last evaluated:
Mar 12, 2019
Accession:
VCV000440678.2
Variation ID:
440678
Description:
single nucleotide variant
Help

NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr)

Allele ID
434329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11120471 (GRCh38) GRCh38 UCSC
19: 11231147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11120471G>A
NC_000019.9:g.11231147G>A
NM_000527.4:c.2089G>A NP_000518.1:p.Ala697Thr missense
... more HGVS
Protein change
A697T, A529T, A656T
Other names
-
Canonical SPDI
NC_000019.10:11120470:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA038513
dbSNP: rs776217028
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 12, 2019 RCV001192332.1
Pathogenic 1 no assertion criteria provided - RCV000508717.1
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
3087 3287

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 12, 2019)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV001360364.1
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Ala676Thr in the mature protein) replaces alanine with threonine at codon … (more)
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: SCV000606595.1
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
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 rs776217028...

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 Apr 08, 2021