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NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000431884.10
Variation ID:
431884
Description:
single nucleotide variant
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NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)

Allele ID
425841
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.2
Genomic location
9: 2639898 (GRCh38) GRCh38 UCSC
9: 2639898 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.2639898A>G
NC_000009.12:g.2639898A>G
NM_003383.5:c.242A>G MANE Select NP_003374.3:p.Asn81Ser missense
... more HGVS
Protein change
N81S
Other names
-
Canonical SPDI
NC_000009.12:2639897:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00199
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00146
The Genome Aggregation Database (gnomAD), exomes 0.00197
Trans-Omics for Precision Medicine (TOPMed) 0.00115
The Genome Aggregation Database (gnomAD) 0.00067
1000 Genomes Project 0.00240
Links
ClinGen: CA4964471
dbSNP: rs140526335
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 Jan 13, 2018 RCV001167941.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 9, 2017 RCV000498823.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000971143.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VLDLR - - GRCh38
GRCh37
230 447

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000597850.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Jun 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000589445.2
Submitted: (Nov 28, 2017)
Evidence details
Comment:
A variant of uncertain significance has been identified in the VLDLR gene. The N81S variant has been reported previously in a study of macular degeneration; … (more)
Benign
(Jun 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708998.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001118765.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001330492.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jun 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155595.6
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=VLDLR - - - -

Text-mined citations for rs140526335...

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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