NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs) AND Hypercholesterolemia, autosomal dominant, 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 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:: RCV004012468.2

Allele description [Variation Report for NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs)]

NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs)

HGVS:

NC_000001.11:g.55061471_55061474del
NG_009061.1:g.26925_26928del
NM_001407240.1:c.1901_1904del
NM_001407241.1:c.1820_1823del
NM_001407242.1:c.1781_1784del
NM_001407243.1:c.1721_1724del
NM_001407244.1:c.1604_1607del
NM_001407245.1:c.1586_1589del
NM_001407246.1:c.1403_1406del
NM_001407247.1:c.1277_1280del
NM_174936.4:c.1778_1781delMANE SELECT
NP_001394169.1:p.Glu634fs
NP_001394170.1:p.Glu607fs
NP_001394171.1:p.Glu594fs
NP_001394172.1:p.Glu574fs
NP_001394173.1:p.Glu535fs
NP_001394174.1:p.Glu529fs
NP_001394175.1:p.Glu468fs
NP_001394176.1:p.Glu426fs
NP_777596.2:p.Glu593Alafs
NP_777596.2:p.Glu593fs
LRG_275t1:c.1778_1781del
LRG_275:g.26925_26928del
LRG_275p1:p.Glu593Alafs
NC_000001.10:g.55527144_55527147del
NM_174936.3:c.1778_1781delAGGC
NR_110451.3:n.2059_2062del
NR_176318.1:n.1862_1865del
NR_176319.1:n.2337_2340del
NR_176320.1:n.2301_2304del
NR_176321.1:n.2016_2019del
NR_176322.1:n.1971_1974del
NR_176323.1:n.1890_1893del
NR_176324.1:n.2278_2281del

Protein change:

E426fs

Molecular consequence:

NM_001407240.1:c.1901_1904del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407241.1:c.1820_1823del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407242.1:c.1781_1784del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407243.1:c.1721_1724del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407244.1:c.1604_1607del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407245.1:c.1586_1589del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407246.1:c.1403_1406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407247.1:c.1277_1280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_174936.4:c.1778_1781del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110451.3:n.2059_2062del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176318.1:n.1862_1865del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176319.1:n.2337_2340del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176320.1:n.2301_2304del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176321.1:n.2016_2019del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176322.1:n.1971_1974del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176323.1:n.1890_1893del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176324.1:n.2278_2281del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hypercholesterolemia, autosomal dominant, 3 (FHCL3)
Synonyms:: Familial hypercholesterolemia 3; Familial Hypercholesterolemia, Autosomal Dominant, 3
Identifiers:: MONDO: MONDO:0011369; MedGen: C1863551; OMIM: 603776

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004842998	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Nov 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004842998

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Nov 30, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004842998.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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