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NC_000008.11:g.(?_143213218)_(143217170_?)del AND Hyperlipoproteinemia, type 1D

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2011
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:
RCV000133531.5

Allele description [Variation Report for NC_000008.11:g.(?_143213218)_(143217170_?)del]

NC_000008.11:g.(?_143213218)_(143217170_?)del

Gene:
GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q24.3
Genomic location:
Chr8: 143213218 - 143217170 (on Assembly GRCh38)
Preferred name:
NC_000008.11:g.(?_143213218)_(143217170_?)del
Other names:
GPIHBP1, DEL
HGVS:
NC_000008.11:g.(?_143213218)_(143217170_?)del
Note:
NCBI staff provided an HGVS expression for allelic variant 612757.0011 from the annotation of GPIHBP1 on GRCh38 and the description as a deletion of the gene. The supplementary materials in the paper by Charriere et al.,2011 (PubMed 21816778) indicated that the loss of only exons 1-3 was verified by PCR.
Nucleotide change:
DEL
Links:
OMIM: 612757.0011

Condition(s)

Name:
Hyperlipoproteinemia, type 1D
Synonyms:
Hyperlipoproteinemia, type ID
Identifiers:
MONDO: MONDO:0014412; MedGen: C4014767; Orphanet: 444490; OMIM: 615947

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188606OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2011) 		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

GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

Charrière S, Peretti N, Bernard S, Di Filippo M, Sassolas A, Merlin M, Delay M, Debard C, Lefai E, Lachaux A, Moulin P, Marçais C.

J Clin Endocrinol Metab. 2011 Oct;96(10):E1675-9. doi: 10.1210/jc.2011-1444. Epub 2011 Aug 3.

PubMed [citation]
PMID:
21816778

Details of each submission

From OMIM, SCV000188606.3

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

Description

For discussion of the deletion of GPIHBP1 that was found in compound heterozygous state in a patient with severe chylomicronemia (615947) by Charriere et al. (2011), see 612757.0006.

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

Last Updated: Aug 26, 2023