NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (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:: RCV000508740.1

Allele description [Variation Report for NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)]

NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)

HGVS:

NC_000019.10:g.11100223_11100345del
NG_009060.1:g.15843_15965del
NM_000527.5:c.70_192delMANE SELECT
NM_001195798.2:c.70_192del
NM_001195799.2:c.68_190del
NM_001195800.2:c.70_192del
NM_001195803.2:c.70_192del
NP_000518.1:p.Gly24_Leu64del
NP_001182727.1:p.Gly24_Leu64del
NP_001182728.1:p.Val23_Ser64delinsAla
NP_001182729.1:p.Gly24_Leu64del
NP_001182732.1:p.Gly24_Leu64del
LRG_274:g.15843_15965del
NC_000019.9:g.11210899_11211021del

Links:

dbSNP: rs1555802242

NCBI 1000 Genomes Browser:

rs1555802242

Molecular consequence:

NM_000527.5:c.70_192del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195798.2:c.70_192del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195800.2:c.70_192del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195803.2:c.70_192del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195799.2:c.68_190del - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV000606003	Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000606003

Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

no assertion criteria provided

Pathogenic

germline

research

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	research

Details of each submission

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606003.1

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

#	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: Aug 5, 2023

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