U.S. flag

An official website of the United States government

NM_000229.2(LCAT):c.1197dup (p.Gln400fs) AND LCAT deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1993
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:
RCV000003854.3

Allele description [Variation Report for NM_000229.2(LCAT):c.1197dup (p.Gln400fs)]

NM_000229.2(LCAT):c.1197dup (p.Gln400fs)

Gene:
LCAT:lecithin-cholesterol acyltransferase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_000229.2(LCAT):c.1197dup (p.Gln400fs)
Other names:
Q376T
HGVS:
  • NC_000016.10:g.67940030dup
  • NG_009778.1:g.9083dup
  • NM_000229.2:c.1197dupMANE SELECT
  • NP_000220.1:p.Gln400fs
  • NC_000016.9:g.67973933dup
  • NM_000229.1:c.1197dup
Note:
NCBI staff reviewed the sequence information reported in PubMed 9354683 Fig. 4 to determine the location of this allele on the current reference sequence. Their codon numbering is offset from that of NP_000220.1 by 24 because they begin numbering the translation after signal peptide cleavage.
Protein change:
Q400fs; GLN376THR
Links:
OMIM: 606967.0014; dbSNP: rs794726663
NCBI 1000 Genomes Browser:
rs794726663
Molecular consequence:
  • NM_000229.2:c.1197dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024019OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1993) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B, Gerdes U, et al.

J Clin Invest. 1993 Feb;91(2):677-83.

PubMed [citation]
PMID:
8432868
PMCID:
PMC288009

Details of each submission

From OMIM, SCV000024019.2

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

Description

For discussion of the 1-bp insertion in the LCAT gene that was found in compound heterozygous state in a patient with LCAT deficiency (245900) by Funke et al. (1993), see 606967.0013.

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

Last Updated: Feb 28, 2024