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NM_000384.3(APOB):c.10740C>T (p.Asn3580=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000495856.11
Variation ID:
495856
Description:
single nucleotide variant
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NM_000384.3(APOB):c.10740C>T (p.Asn3580=)

Allele ID
486938
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21006128 (GRCh38) GRCh38 UCSC
2: 21229000 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21229000G>A
NC_000002.12:g.21006128G>A
NM_000384.3:c.10740C>T MANE Select NP_000375.3:p.Asn3580= synonymous
NG_011793.1:g.42946C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:21006127:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00021
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA044609
dbSNP: rs150312765
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 Feb 1, 2019 RCV000589240.4
Likely benign 1 criteria provided, single submitter Jan 2, 2018 RCV000660659.1
Likely benign 1 criteria provided, single submitter Aug 23, 2017 RCV000771603.1
Likely benign 1 criteria provided, single submitter Nov 10, 2020 RCV001082020.2
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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
Benign
(Jan 04, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696658.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The APOB c.10740C>T (p.Asn3580Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a … (more)
Likely benign
(Jan 02, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
(Autosomal dominant inheritance)
Allele origin: germline
Robarts Research Institute,Western University
Accession: SCV000782793.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000904207.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV001003899.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152120.6
Submitted: (Jul 04, 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.

Text-mined citations for rs150312765...

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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 Jul 10, 2021