NM_174936.4(PCSK9):c.335T>C (p.Leu112Pro) AND Hypercholesterolemia, autosomal dominant, 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 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:: RCV004015940.2

Allele description [Variation Report for NM_174936.4(PCSK9):c.335T>C (p.Leu112Pro)]

NM_174936.4(PCSK9):c.335T>C (p.Leu112Pro)

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.335T>C (p.Leu112Pro)

HGVS:

NC_000001.11:g.55043970T>C
NG_009061.1:g.9424T>C
NG_091196.1:g.623T>C
NG_091197.1:g.121T>C
NM_001407240.1:c.458T>C
NM_001407241.1:c.335T>C
NM_001407242.1:c.335T>C
NM_001407243.1:c.335T>C
NM_001407244.1:c.335T>C
NM_001407245.1:c.208-2553T>C
NM_001407246.1:c.-41T>C
NM_001407247.1:c.335T>C
NM_174936.4:c.335T>CMANE SELECT
NP_001394169.1:p.Leu153Pro
NP_001394170.1:p.Leu112Pro
NP_001394171.1:p.Leu112Pro
NP_001394172.1:p.Leu112Pro
NP_001394173.1:p.Leu112Pro
NP_001394176.1:p.Leu112Pro
NP_777596.2:p.Leu112Pro
NP_777596.2:p.Leu112Pro
LRG_275t1:c.335T>C
LRG_275:g.9424T>C
LRG_275p1:p.Leu112Pro
NC_000001.10:g.55509643T>C
NM_174936.3:c.335T>C
NR_176319.1:n.625T>C
NR_176320.1:n.748T>C
NR_176321.1:n.625T>C
NR_176322.1:n.625T>C
NR_176323.1:n.625T>C
NR_176324.1:n.625T>C

Protein change:

L112P

Molecular consequence:

NM_001407246.1:c.-41T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407245.1:c.208-2553T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407240.1:c.458T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407241.1:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407242.1:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407243.1:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407244.1:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407247.1:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_174936.4:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_176319.1:n.625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176320.1:n.748T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176321.1:n.625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176322.1:n.625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176323.1:n.625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176324.1:n.625T>C - 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

Recent activity

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Mus musculus zinc finger with KRAB and SCAN domains 3 (Zkscan3), transcript vari...
Mus musculus zinc finger with KRAB and SCAN domains 3 (Zkscan3), transcript variant 1, mRNA
gi|1560049523|ref|NM_001145778.2|

Nucleotide
zinc finger protein with KRAB and SCAN domains 3 isoform X3 [Mus musculus]
zinc finger protein with KRAB and SCAN domains 3 isoform X3 [Mus musculus]
gi|1907094581|ref|XP_036014078.1|

Protein
Ostorhinchus cyanosoma isolate ASIZP0806136 cytochrome oxidase subunit I (COI) g...
Ostorhinchus cyanosoma isolate ASIZP0806136 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|1101490324|gb|KU943667.1|

Nucleotide
Escherichia coli HVH 138 (4-6066704) acYyz-supercont1.5, whole genome shotgun se...
Escherichia coli HVH 138 (4-6066704) acYyz-supercont1.5, whole genome shotgun sequence
gi|545233443|ref|NZ_KE700123.1||gnl NZ_AVWX01|acYyz-supercont1.5

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004828840	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jun 27, 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

SCV004828840

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Jun 27, 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, SCV004828840.1

#	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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