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NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) AND Hypercholesterolemia, familial, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 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:
RCV000408779.3

Allele description [Variation Report for NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)]

NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)

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.1251C>A (p.His417Gln)
HGVS:
  • NC_000001.11:g.55058106C>A
  • NG_009061.1:g.23560C>A
  • NM_001407240.1:c.1374C>A
  • NM_001407241.1:c.1251C>A
  • NM_001407242.1:c.1254C>A
  • NM_001407243.1:c.1194C>A
  • NM_001407245.1:c.1059C>A
  • NM_001407246.1:c.876C>A
  • NM_174936.4:c.1251C>AMANE SELECT
  • NP_001394169.1:p.His458Gln
  • NP_001394170.1:p.His417Gln
  • NP_001394171.1:p.His418Gln
  • NP_001394172.1:p.His398Gln
  • NP_001394174.1:p.His353Gln
  • NP_001394175.1:p.His292Gln
  • NP_777596.2:p.H417Q
  • NP_777596.2:p.His417Gln
  • NP_777596.2:p.His417Gln
  • LRG_275t1:c.1251C>A
  • LRG_275:g.23560C>A
  • LRG_275p1:p.His417Gln
  • NC_000001.10:g.55523779C>A
  • NM_174936.3:c.1251C>A
  • NR_110451.2:n.910C>A
  • NR_110451.3:n.1584C>A
  • NR_176318.1:n.1225C>A
  • NR_176319.1:n.1810C>A
  • NR_176320.1:n.1664C>A
  • NR_176321.1:n.1541C>A
  • NR_176322.1:n.1444C>A
  • NR_176323.1:n.1541C>A
  • NR_176324.1:n.1803C>A
Protein change:
H292Q
Links:
dbSNP: rs143275858
NCBI 1000 Genomes Browser:
rs143275858
Molecular consequence:
  • NM_001407240.1:c.1374C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407241.1:c.1251C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407242.1:c.1254C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407243.1:c.1194C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407245.1:c.1059C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407246.1:c.876C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174936.4:c.1251C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypercholesterolemia, familial, 1
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000484815Robarts Research Institute, Western University
criteria provided, single submitter

(Wang et al. (Arterioscler Thromb Vasc Biol. 2016))
Uncertain significance
(Aug 22, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

Wang J, Dron JS, Ban MR, Robinson JF, McIntyre AD, Alazzam M, Zhao PJ, Dilliott AA, Cao H, Huff MW, Rhainds D, Low-Kam C, Dubé MP, Lettre G, Tardif JC, Hegele RA.

Arterioscler Thromb Vasc Biol. 2016 Dec;36(12):2439-2445. Epub 2016 Oct 20.

PubMed [citation]
PMID:
27765764

Details of each submission

From Robarts Research Institute, Western University, SCV000484815.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024