NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 30, 2018
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:: RCV002356357.9

Allele description [Variation Report for NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)]

NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)

Gene:

PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)

HGVS:

NC_000001.10:g.55505570_55505575dup
NC_000001.11:g.55039882GCT[9]
NG_009061.1:g.5336GCT[9]
NG_009061.1:g.5351_5356dup
NM_174936.4:c.45GCT[9]MANE SELECT
NP_777596.2:p.Leu22_Leu23dup
LRG_275:g.5336GCT[9]
NC_000001.10:g.55505552_55505553insCTGCTG
NC_000001.10:g.55505555GCT[9]
NC_000001.10:g.55505570_55505575dup
NC_000001.11:g.55039902_55039903insGCTGCT
NG_009061.1:g.5351_5356dup
NM_174936.3:c.60_65dupGCTGCT

Links:

dbSNP: rs35574083

NCBI 1000 Genomes Browser:

rs35574083

Molecular consequence:

NM_174936.4:c.45GCT[9] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV002656171	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jul 30, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27784735, 28965616 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002656171

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jul 30, 2018)

germline

clinical testing

PubMed (2)
[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

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M.

Circ Cardiovasc Genet. 2016 Dec;9(6):504-510. doi: 10.1161/CIRCGENETICS.116.001545. Epub 2016 Oct 26.

PubMed [citation]

PMID:: 27784735

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A, Garlaschelli K, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Catapano AL; LIPIGEN Group..

Atheroscler Suppl. 2017 Oct;29:17-24. doi: 10.1016/j.atherosclerosissup.2017.07.002.

PubMed [citation]

PMID:: 28965616

Details of each submission

From Ambry Genetics, SCV002656171.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Jun 2, 2024

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