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NM_000229.2(LCAT):c.827T>A (p.Met276Lys) AND LCAT deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 1992
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:
RCV000003850.2

Allele description [Variation Report for NM_000229.2(LCAT):c.827T>A (p.Met276Lys)]

NM_000229.2(LCAT):c.827T>A (p.Met276Lys)

Gene:
LCAT:lecithin-cholesterol acyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_000229.2(LCAT):c.827T>A (p.Met276Lys)
Other names:
M252K
HGVS:
  • NC_000016.10:g.67940400A>T
  • NG_009778.1:g.8713T>A
  • NM_000229.2:c.827T>AMANE SELECT
  • NP_000220.1:p.Met276Lys
  • NC_000016.9:g.67974303A>T
  • P04180:p.Met276Lys
Protein change:
M276K; MET252LYS
Links:
UniProtKB: P04180#VAR_004264; OMIM: 606967.0010; dbSNP: rs121908054
NCBI 1000 Genomes Browser:
rs121908054
Molecular consequence:
  • NM_000229.2:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
LCAT deficiency
Synonyms:
Lecithin Acyltransferase Deficiency
Identifiers:
MONDO: MONDO:0018999; MedGen: C5779633; Orphanet: 650; Orphanet: 79293

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024015OMIM
no assertion criteria provided
Pathogenic
(Sep 14, 1992) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial serum-cholesterol esterification failure. A new inborn error of metabolism.

Norum KR, Gjone E.

Biochim Biophys Acta. 1967 Dec 5;144(3):698-700. No abstract available.

PubMed [citation]
PMID:
6078131

The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

Skretting G, Blomhoff JP, Solheim J, Prydz H.

FEBS Lett. 1992 Sep 14;309(3):307-10.

PubMed [citation]
PMID:
1516702

Details of each submission

From OMIM, SCV000024015.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In studies of 3 of the original Norwegian LCAT deficiency (245900) families (Norum and Gjone, 1967), Skretting et al. (1992) found a T-to-A transversion in codon 252 in exon 6 converting met (ATG) to lys (AAG) in all homozygotes. In spite of the identical mutation, the clinical picture differed in severity. This variation in severity was not reflected in the expression of LCAT in the heterozygotes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024