NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 30, 2017
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:: RCV000495918.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu)]

NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu)

HGVS:

NC_000019.10:g.11116891_11116892insTGT
NG_009060.1:g.32511_32512insTGT
NM_000527.5:c.1738_1739insTGTMANE SELECT
NM_001195798.2:c.1738_1739insTGT
NM_001195799.2:c.1615_1616insTGT
NM_001195800.2:c.1234_1235insTGT
NM_001195803.2:c.1357_1358insTGT
NP_000518.1:p.Asp579_Ser580insLeu
NP_000518.1:p.Ser580_Lys581insLeu
NP_001182727.1:p.Asp579_Ser580insLeu
NP_001182728.1:p.Asp538_Ser539insLeu
NP_001182729.1:p.Asp411_Ser412insLeu
NP_001182732.1:p.Asp452_Ser453insLeu
LRG_274t1:c.1738_1739insTGT
LRG_274:g.32511_32512insTGT
LRG_274p1:p.Ser580_Lys581insLeu
NC_000019.9:g.11227567_11227568insTGT
NM_000527.4:c.1738_1739insTGT

Links:

dbSNP: rs1131692215

NCBI 1000 Genomes Browser:

rs1131692215

Molecular consequence:

NM_000527.5:c.1738_1739insTGT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001195798.2:c.1738_1739insTGT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001195799.2:c.1615_1616insTGT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001195800.2:c.1234_1235insTGT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001195803.2:c.1357_1358insTGT - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

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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RecName: Full=Bis(monoacylglycero)phosphate synthase CLN5; Short=BMP synthase CL...
RecName: Full=Bis(monoacylglycero)phosphate synthase CLN5; Short=BMP synthase CLN5; AltName: Full=Ceroid-lipofuscinosis neuronal protein 5; Short=Protein CLN5; AltName: Full=Palmitoyl protein thioesterase CLN5; AltName: Full=S-depalmitoylase CLN5; Contains: RecName: Full=Bis(monoacylglycero)phosphate synthase CLN5, secreted form
gi|187608866|sp|O75503.2|CLN5_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000583876	U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 30, 2017)	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

SCV000583876

U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 30, 2017)

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	yes	1	1	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 U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583876.1

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

Description

Dutch Lipid Clinic Scoring : Definite FH

#	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	1	not provided

Last Updated: Jun 23, 2024

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