NM_000237.3(LPL):c.693C>G (p.Asp231Glu) AND Hyperlipoproteinemia, type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1991
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000001592.2

Allele description [Variation Report for NM_000237.3(LPL):c.693C>G (p.Asp231Glu)]

NM_000237.3(LPL):c.693C>G (p.Asp231Glu)

Gene:

LPL:lipoprotein lipase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

Preferred name:

NM_000237.3(LPL):c.693C>G (p.Asp231Glu)

Other names:

D204E

HGVS:

NC_000008.11:g.19954271C>G
NG_008855.1:g.20201C>G
NG_008855.2:g.57555C>G
NM_000237.3:c.693C>GMANE SELECT
NP_000228.1:p.Asp231Glu
LRG_1298t1:c.693C>G
LRG_1298:g.57555C>G
LRG_1298p1:p.Asp231Glu
NC_000008.10:g.19811782C>G
P06858:p.Asp231Glu

Protein change:

D231E; ASP204GLU

Links:

UniProtKB: P06858#VAR_004229; OMIM: 609708.0018; dbSNP: rs118204067

NCBI 1000 Genomes Browser:

rs118204067

Molecular consequence:

NM_000237.3:c.693C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperlipoproteinemia, type I
Synonyms:: HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Hyperlipoproteinemia type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009387; MedGen: C0023817; Orphanet: 444490; OMIM: 238600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021748	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1991)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021748

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1991)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

Gotoda T, Yamada N, Kawamura M, Kozaki K, Mori N, Ishibashi S, Shimano H, Takaku F, Yazaki Y, Furuichi Y, Murase T.

J Clin Invest. 1991 Dec;88(6):1856-64.

PubMed [citation]

PMID:: 1752947
PMCID:: PMC295753

Details of each submission

From OMIM, SCV000021748.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 1 of 5 unrelated Japanese patients with familial LPL deficiency (238600), Gotoda et al. (1991) demonstrated homozygosity for a missense mutation, asp204 to glu (D204E), located in a strictly conserved amino acid.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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