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NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000199684.8
Variation ID:
199684
Description:
single nucleotide variant
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NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)

Allele ID
196823
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21028495 (GRCh38) GRCh38 UCSC
2: 21251367 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21251367G>A
NC_000002.12:g.21028495G>A
NM_000384.3:c.1661C>T MANE Select NP_000375.3:p.Pro554Leu missense
NG_011793.1:g.20579C>T
Protein change
P554L
Other names
-
Canonical SPDI
NC_000002.12:21028494:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022797
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 22, 2019 RCV000845454.4
Uncertain significance 1 criteria provided, single submitter Mar 1, 2016 RCV000497215.1
Likely benign 1 criteria provided, single submitter Jul 15, 2017 RCV000776488.1
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001086696.2
Uncertain significance 1 criteria provided, single submitter Aug 30, 2018 RCV001138594.1
Benign 1 criteria provided, single submitter Aug 30, 2018 RCV001138595.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
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: SCV000588419.1
Submitted: (Aug 04, 2017)
Evidence details
Likely benign
(Jul 15, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000912068.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Nov 22, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469333.1
Submitted: (Dec 31, 2020)
Evidence details
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV000987543.1
Submitted: (Feb 19, 2019)
Evidence details
Uncertain significance
(Aug 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001298658.1
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
(Aug 30, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001298659.1
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
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000777091.4
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021