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NM_178172.6(GPIHBP1):c.285C>T (p.His95=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 4, 2019
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:
RCV002434329.3

Allele description [Variation Report for NM_178172.6(GPIHBP1):c.285C>T (p.His95=)]

NM_178172.6(GPIHBP1):c.285C>T (p.His95=)

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.285C>T (p.His95=)
HGVS:
  • NC_000008.11:g.143215116C>T
  • NG_034256.1:g.6924C>T
  • NM_001301772.2:c.285C>T
  • NM_178172.6:c.285C>TMANE SELECT
  • NP_001288701.1:p.His95=
  • NP_835466.2:p.His95=
  • NC_000008.10:g.144296991C>T
  • NC_000008.10:g.144296991C>T
  • NM_178172.3:c.285C>T
  • NM_178172.5:c.285C>T
Links:
dbSNP: rs138215873
NCBI 1000 Genomes Browser:
rs138215873
Molecular consequence:
  • NM_001301772.2:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_178172.6:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002752782Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 4, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002752782.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely 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: Dec 22, 2024