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NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 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:
RCV000860913.5

Allele description [Variation Report for NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)]

NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)

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.1660C>G (p.Gln554Glu)
HGVS:
  • NC_000001.11:g.55059642C>G
  • NG_009061.1:g.25096C>G
  • NM_001407240.1:c.1783C>G
  • NM_001407241.1:c.1702C>G
  • NM_001407242.1:c.1663C>G
  • NM_001407243.1:c.1603C>G
  • NM_001407244.1:c.1486C>G
  • NM_001407245.1:c.1468C>G
  • NM_001407246.1:c.1285C>G
  • NM_174936.4:c.1660C>GMANE SELECT
  • NP_001394169.1:p.Gln595Glu
  • NP_001394170.1:p.Gln568Glu
  • NP_001394171.1:p.Gln555Glu
  • NP_001394172.1:p.Gln535Glu
  • NP_001394173.1:p.Gln496Glu
  • NP_001394174.1:p.Gln490Glu
  • NP_001394175.1:p.Gln429Glu
  • NP_777596.2:p.Gln554Glu
  • NP_777596.2:p.Gln554Glu
  • LRG_275t1:c.1660C>G
  • LRG_275:g.25096C>G
  • LRG_275p1:p.Gln554Glu
  • NC_000001.10:g.55525315C>G
  • NM_174936.3:c.1660C>G
  • NR_110451.2:n.1267C>G
  • NR_110451.3:n.1941C>G
  • NR_176318.1:n.1634C>G
  • NR_176319.1:n.2219C>G
  • NR_176320.1:n.2073C>G
  • NR_176321.1:n.1898C>G
  • NR_176322.1:n.1853C>G
  • NR_176324.1:n.2160C>G
Protein change:
Q429E
Links:
Molecular consequence:
  • NM_001407240.1:c.1783C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407241.1:c.1702C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407242.1:c.1663C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407243.1:c.1603C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407244.1:c.1486C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407245.1:c.1468C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407246.1:c.1285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174936.4:c.1660C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001134566Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Benign
(May 28, 2019) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

Kotowski IK, Pertsemlidis A, Luke A, Cooper RS, Vega GL, Cohen JC, Hobbs HH.

Am J Hum Genet. 2006 Mar;78(3):410-22. Epub 2006 Jan 20.

PubMed [citation]
PMID:
16465619
PMCID:
PMC1380285

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, et al.

Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010.

PubMed [citation]
PMID:
24507775
PMCID:
PMC3928660
See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134566.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024