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NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2024
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:
RCV004023325.1

Allele description [Variation Report for NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)]

NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)

Gene:
PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
HGVS:
  • NC_000001.11:g.55057514G>A
  • NG_009061.1:g.22968G>A
  • NM_001407240.1:c.1303G>A
  • NM_001407241.1:c.1180G>A
  • NM_001407242.1:c.1183G>A
  • NM_001407243.1:c.1123G>A
  • NM_001407244.1:c.1180G>A
  • NM_001407245.1:c.988G>A
  • NM_001407246.1:c.805G>A
  • NM_001407247.1:c.1180G>A
  • NM_174936.4:c.1180G>AMANE SELECT
  • NP_001394169.1:p.Gly435Ser
  • NP_001394170.1:p.Gly394Ser
  • NP_001394171.1:p.Gly395Ser
  • NP_001394172.1:p.Gly375Ser
  • NP_001394173.1:p.Gly394Ser
  • NP_001394174.1:p.Gly330Ser
  • NP_001394175.1:p.Gly269Ser
  • NP_001394176.1:p.Gly394Ser
  • NP_777596.2:p.Gly394Ser
  • NP_777596.2:p.Gly394Ser
  • LRG_275t1:c.1180G>A
  • LRG_275:g.22968G>A
  • LRG_275p1:p.Gly394Ser
  • NC_000001.10:g.55523187G>A
  • NM_174936.3:c.1180G>A
  • NR_110451.2:n.839G>A
  • NR_110451.3:n.1513G>A
  • NR_176318.1:n.1154G>A
  • NR_176319.1:n.1739G>A
  • NR_176320.1:n.1593G>A
  • NR_176321.1:n.1470G>A
  • NR_176322.1:n.1373G>A
  • NR_176323.1:n.1470G>A
  • NR_176324.1:n.1732G>A
Protein change:
G269S
Links:
Molecular consequence:
  • NM_001407240.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407241.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407242.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407243.1:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407244.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407245.1:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407246.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407247.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174936.4:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005030848Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 1, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Ambry Genetics, SCV005030848.1

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

Description

The p.G394S variant (also known as c.1180G>A), located in coding exon 7 of the PCSK9 gene, results from a G to A substitution at nucleotide position 1180. The amino acid change results in glycine to serine at codon 394, an amino acid with similar properties. This alteration has been reported in a familial hypercholesterolemia (FH) cohort and in a subject with low cholesterol (Huijgen R et al. Hum Mutat, 2012 Feb;33:448-55; Lange LA et al. Am J Hum Genet, 2014 Feb;94:233-45). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024