NM_000527.5(LDLR):c.356_362del (p.Gly119fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 25, 2016
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:: RCV000237864.1

Allele description [Variation Report for NM_000527.5(LDLR):c.356_362del (p.Gly119fs)]

NM_000527.5(LDLR):c.356_362del (p.Gly119fs)

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.356_362del (p.Gly119fs)

HGVS:

NC_000019.10:g.11105262_11105268del
NG_009060.1:g.20882_20888del
NM_000527.5:c.356_362delMANE SELECT
NM_001195798.2:c.356_362del
NM_001195799.2:c.233_239del
NM_001195800.2:c.314-2130_314-2124del
NM_001195803.2:c.314-1303_314-1297del
NP_000518.1:p.Gly119fs
NP_001182727.1:p.Gly119fs
NP_001182728.1:p.Gly78fs
LRG_274:g.20882_20888del
NC_000019.9:g.11215938_11215944del
c.356_362del

Protein change:

G119fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000403; dbSNP: rs879254490

NCBI 1000 Genomes Browser:

rs879254490

Molecular consequence:

NM_000527.5:c.356_362del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.356_362del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.233_239del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.314-2130_314-2124del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1303_314-1297del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000294651	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294651

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

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	1	not provided	literature only

Citations

PubMed

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.

Hattori H, Nagano M, Iwata F, Homma Y, Egashira T, Okada T.

Hum Mutat. 1999;14(1):87.

PubMed [citation]

PMID:: 10447263

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294651.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Aug 5, 2023

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