NM_174936.4(PCSK9):c.1863+20C>G AND Hypercholesterolemia, autosomal dominant, 3

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001270433.1

Allele description [Variation Report for NM_174936.4(PCSK9):c.1863+20C>G]

NM_174936.4(PCSK9):c.1863+20C>G

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.1863+20C>G

HGVS:

NC_000001.11:g.55061576C>G
NG_009061.1:g.27030C>G
NM_174936.4:c.1863+20C>GMANE SELECT
LRG_275t1:c.1863+20C>G
LRG_275:g.27030C>G
NC_000001.10:g.55527249C>G
NM_174936.3:c.1863+20C>G

Links:

dbSNP: rs760064829

NCBI 1000 Genomes Browser:

rs760064829

Molecular consequence:

NM_174936.4:c.1863+20C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001450532	Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	no assertion criteria provided	Likely benign	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450532

Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

no assertion criteria provided

Likely benign

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Iranian	somatic	yes	12	not provided	not provided	not provided	not provided	research

Details of each submission

From Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, SCV001450532.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Iranian	12	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		12	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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