Single allele AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 2019
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:: RCV001449857.5

Allele description [Variation Report for Single allele]

Gene:: LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 19p13.2
Genomic location:: Chr19: 11233850 - 11234020 (on Assembly GRCh37)
HGVS:: NC_000019.9:g.(?_11233850)_(11234020_?)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: Hypercholesterolemia, familial, 1
Synonyms:: LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001653254	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 21, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 2831865, 1315570, 8218110, 3005267, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001653254

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 21, 2019)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

New variant of low density lipoprotein receptor gene. FH-Tonami.

Kajinami K, Mabuchi H, Itoh H, Michishita I, Takeda M, Wakasugi T, Koizumi J, Takeda R.

Arteriosclerosis. 1988 Mar-Apr;8(2):187-92.

PubMed [citation]

PMID:: 2831865

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels.

Koivisto PV, Koivisto UM, Miettinen TA, Kontula K.

Arterioscler Thromb. 1992 May;12(5):584-92.

PubMed [citation]

PMID:: 1315570

See all PubMed Citations (5)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001653254.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

An in-frame deletion of exon 15 of the LDLR gene. PS4, PP1_Strong, PS3_Moderate, PM2, PM4

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

Last Updated: Aug 5, 2023

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