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NM_000384.3(APOB):c.2585T>C (p.Val862Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: May 19, 2020)
Last evaluated:
Dec 3, 2018
Accession:
VCV000189305.3
Variation ID:
189305
Description:
single nucleotide variant
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NM_000384.3(APOB):c.2585T>C (p.Val862Ala)

Allele ID
187190
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21023544 (GRCh38) GRCh38 UCSC
2: 21246416 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21246416A>G
NC_000002.12:g.21023544A>G
NM_000384.3:c.2585T>C MANE Select NP_000375.3:p.Val862Ala missense
NG_011793.1:g.25530T>C
Protein change
V862A
Other names
-
Canonical SPDI
NC_000002.12:21023543:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00002
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA022812
dbSNP: rs145142090
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV000172972.3
Uncertain significance 1 criteria provided, single submitter Apr 16, 2016 RCV000468217.1
Uncertain significance 1 criteria provided, single submitter Dec 3, 2018 RCV000775217.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APOB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2194 2311

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: research
Familial Hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Institute for Integrative and Experimental Genomics,University of Luebeck
Accession: SCV000212150.1
Submitted: (Mar 03, 2015)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 16, 2016)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000541937.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces valine with alanine at codon 862 of the APOB protein (p.Val862Ala). The valine residue is moderately conserved and there is a … (more)
Uncertain significance
(Dec 03, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV000909461.2
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance based on current evidence: This missense variant (also known as p.Val835Ala in the mature protein) is located in the beta alpha … (more)
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
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. Brænne I European journal of human genetics : EJHG 2016 PMID: 26036859

Text-mined citations for rs145142090...

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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 Jun 02, 2021