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NM_000237.3(LPL):c.953A>G (p.Asn318Ser)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 3, 2017)
Last evaluated:
Dec 3, 2017
Accession:
VCV000001550.2
Variation ID:
1550
Description:
single nucleotide variant
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NM_000237.3(LPL):c.953A>G (p.Asn318Ser)

Allele ID
16589
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p21.3
Genomic location
8: 19956018 (GRCh38) GRCh38 UCSC
8: 19813529 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.19956018A>G
NC_000008.10:g.19813529A>G
NM_000237.3:c.953A>G NP_000228.1:p.Asn318Ser missense
... more HGVS
Protein change
N291S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00519 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.01336
The Genome Aggregation Database (gnomAD) 0.01448
1000 Genomes Project 0.00519
Trans-Omics for Precision Medicine (TOPMed) 0.01091
The Genome Aggregation Database (gnomAD), exomes 0.01278
Links
ClinGen: CA251887
UniProtKB: P06858#VAR_004239
OMIM: 609708.0033
dbSNP: rs268
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 3, 2017 RCV000001615.3
Hyperlipidemia, familial combined, susceptibility to
risk factor 1 no assertion criteria provided Sep 1, 1995 RCV000781944.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LPL - - GRCh38
GRCh37
117 185

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 03, 2017)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746401.1
Submitted: (Dec 03, 2017)
Evidence details
risk factor
(Sep 01, 1995)
no assertion criteria provided
Method: literature only
COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000021771.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Reymer PW Human molecular genetics 1995 PMID: 8541837

Record last updated Oct 27, 2019