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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002622904	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 7, 2023)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 19081568, 23064986, 23680767, 26195630, 26374825, 28994502, 31491741, 33955087, 34037665, 34407635 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002622904

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 7, 2023)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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