NM_174936.4(PCSK9):c.399+1G>C AND Familial hypercholesterolemia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 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:: RCV001524386.3

Allele description [Variation Report for NM_174936.4(PCSK9):c.399+1G>C]

NM_174936.4(PCSK9):c.399+1G>C

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.399+1G>C

HGVS:

NC_000001.11:g.55044035G>C
NG_009061.1:g.9489G>C
NG_091196.1:g.688G>C
NG_091197.1:g.186G>C
NM_001407240.1:c.522+1G>C
NM_001407241.1:c.399+1G>C
NM_001407242.1:c.399+1G>C
NM_001407243.1:c.399+1G>C
NM_001407244.1:c.399+1G>C
NM_001407245.1:c.208-2488G>C
NM_001407246.1:c.24+1G>C
NM_001407247.1:c.399+1G>C
NM_174936.4:c.399+1G>CMANE SELECT
LRG_275t1:c.399+1G>C
LRG_275:g.9489G>C
NC_000001.10:g.55509708G>C
NM_174936.3:c.399+1G>C

Links:

dbSNP: rs1461760908

NCBI 1000 Genomes Browser:

rs1461760908

Molecular consequence:

NM_001407245.1:c.208-2488G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407240.1:c.522+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407241.1:c.399+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407242.1:c.399+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407243.1:c.399+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407244.1:c.399+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407246.1:c.24+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407247.1:c.399+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_174936.4:c.399+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Familial hypercholesterolemia
Identifiers:: MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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de78h07.x1 Kirschner embryo St10 14 Xenopus laevis cDNA clone IMAGE:3518053 3' similar to SW:G3P_XENLA P51469 GLYCERALDEHYDE 3-PHOSPHATE DEHYDROGENASE, mRNA sequence
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Nucleotide
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gi|37259957|gnl|dbEST|19925335|dbj| 324.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001734212	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 25, 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

SCV001734212

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 25, 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	not provided	not provided	not provided	not provided	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 Color Diagnostics, LLC DBA Color Health, SCV001734212.2

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

Description

This variant causes a G to C nucleotide substitution at the +1 position of intron 2 of the PCSK9 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PCSK9-related disorders in the literature. This variant has been identified in 3/251136 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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 1, 2024

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