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NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 18, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002343751.2

Allele description [Variation Report for NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)]

NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)

Gene:
GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)
HGVS:
  • NC_000008.11:g.143215331G>A
  • NG_034256.1:g.7139G>A
  • NM_001301772.2:c.368G>A
  • NM_178172.6:c.368G>AMANE SELECT
  • NP_001288701.1:p.Gly123Glu
  • NP_835466.2:p.Gly123Glu
  • NC_000008.10:g.144297206G>A
  • NM_178172.3:c.368G>A
  • NM_178172.5:c.368G>A
  • NM_178172.6:c.368G>A
Protein change:
G123E
Links:
dbSNP: rs201685731
NCBI 1000 Genomes Browser:
rs201685731
Molecular consequence:
  • NM_001301772.2:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178172.6:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002621421Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Sep 18, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP, Davies BS, Tat S, Chen J, Gin P, Voss CV, Weinstein MM, Bensadoun A, Pullinger CR, Fong LG, Young SG.

J Biol Chem. 2011 Jun 3;286(22):19735-43. doi: 10.1074/jbc.M111.242024. Epub 2011 Apr 7.

PubMed [citation]
PMID:
21478160
PMCID:
PMC3103352

The Role of Genetics in Cardiovascular Risk Reduction: Findings From a Single Lipid Clinic and Review of the Literature.

Benes LB, Brummell K, Roth M, Shen L, Davidson MH.

Cardiovasc Revasc Med. 2020 Feb;21(2):200-204. doi: 10.1016/j.carrev.2019.04.006. Epub 2019 May 8. Review.

PubMed [citation]
PMID:
31153847

Details of each submission

From Ambry Genetics, SCV002621421.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024