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NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 15, 2020
Accession:
VCV000402379.6
Variation ID:
402379
Description:
single nucleotide variant
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NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)

Allele ID
389492
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21005107 (GRCh38) GRCh38 UCSC
2: 21227979 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21227979C>T
NC_000002.12:g.21005107C>T
NM_000384.3:c.11761G>A MANE Select NP_000375.3:p.Val3921Ile missense
NG_011793.1:g.43967G>A
Protein change
V3921I
Other names
-
Canonical SPDI
NC_000002.12:21005106:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA047332
Varsome
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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 1, 2016 RCV000497114.1
Benign 1 criteria provided, single submitter Nov 15, 2020 RCV000527382.5
Likely benign 1 criteria provided, single submitter Sep 1, 2017 RCV000776107.1
Likely benign 1 criteria provided, single submitter Jan 29, 2018 RCV001139228.1
Uncertain significance 1 criteria provided, single submitter Jan 29, 2018 RCV001139229.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 12, 2017 RCV000455519.2
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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
2193 2310

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 23, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000538332.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: HipercolBrasil
Accession: SCV000588458.1
Submitted: (Aug 04, 2017)
Evidence details
Benign
(Jul 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730563.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000910952.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Jan 29, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001299348.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jan 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001299349.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000659255.5
Submitted: (Jan 07, 2021)
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
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia. Leren TP Human genetics 1998 PMID: 9490296

Record last updated Jul 07, 2021