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NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2023
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:
RCV002356513.9

Allele description [Variation Report for NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)]

NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)

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.385G>A (p.Asp129Asn)
HGVS:
  • NC_000001.11:g.55044020G>A
  • NG_009061.1:g.9474G>A
  • NM_174936.4:c.385G>AMANE SELECT
  • NP_777596.2:p.Asp129Asn
  • NP_777596.2:p.Asp129Asn
  • LRG_275t1:c.385G>A
  • LRG_275:g.9474G>A
  • LRG_275p1:p.Asp129Asn
  • NC_000001.10:g.55509693G>A
  • NM_174936.3:c.385G>A
Protein change:
D129N
Links:
Molecular consequence:
  • NM_174936.4:c.385G>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
SCV002622904Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2023) 		germlineclinical testing

PubMed (10)
[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

Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.

Fasano T, Sun XM, Patel DD, Soutar AK.

Atherosclerosis. 2009 Mar;203(1):166-71. doi: 10.1016/j.atherosclerosis.2008.10.027. Epub 2008 Nov 6.

PubMed [citation]
PMID:
19081568

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Ahmad Z, Adams-Huet B, Chen C, Garg A.

Circ Cardiovasc Genet. 2012 Dec;5(6):666-75. doi: 10.1161/CIRCGENETICS.112.963587. Epub 2012 Oct 11.

PubMed [citation]
PMID:
23064986
PMCID:
PMC3774009
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV002622904.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

The c.385G>A (p.D129N) alteration is located in exon 2 (coding exon 2) of the PCSK9 gene. This alteration results from a G to A substitution at nucleotide position 385, causing the aspartic acid (D) at amino acid position 129 to be replaced by an asparagine (N). Based on insufficient or conflicting 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