NM_000527.5(LDLR):c.1492_1493del (p.Val498fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 13, 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:: RCV001255949.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)]

NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)

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.1492_1493del (p.Val498fs)

HGVS:

NC_000019.10:g.11113668_11113669del
NG_009060.1:g.29288_29289del
NM_000527.5:c.1492_1493delMANE SELECT
NM_001195798.2:c.1492_1493del
NM_001195799.2:c.1369_1370del
NM_001195800.2:c.988_989del
NM_001195803.2:c.1111_1112del
NP_000518.1:p.Val498fs
NP_001182727.1:p.Val498fs
NP_001182728.1:p.Val457fs
NP_001182729.1:p.Val330fs
NP_001182732.1:p.Val371fs
LRG_274t1:c.1492_1493del
LRG_274:g.29288_29289del
NC_000019.9:g.11224343_11224344del
NC_000019.9:g.11224344_11224345del
NM_000527.4:c.1492_1493delGT

Protein change:

V330fs

Links:

dbSNP: rs2077419354

NCBI 1000 Genomes Browser:

rs2077419354

Molecular consequence:

NM_000527.5:c.1492_1493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1492_1493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1369_1370del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.988_989del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1111_1112del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

BioProject Links for Nucleotide (Select 1493934293) (1)
BioProject
Taxonomy Links for Nucleotide (Select 1493934306) (1)
Taxonomy
RefSeq RNA Links for Gene (Select 9113) (30)
Nucleotide
bacterio-opsin activator domain-containing protein, partial [Haloferax sp. Atlit...
bacterio-opsin activator domain-containing protein, partial [Haloferax sp. Atlit-109R]
gi|2278256777|ref|WP_255409759.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432654	Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 13, 2019)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31345425

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432654

Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 13, 2019)

germline

research

PubMed (2)
[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	2	not provided	not provided	2	not provided	research

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

Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.

Trinder M, Li X, DeCastro ML, Cermakova L, Sadananda S, Jackson LM, Azizi H, Mancini GBJ, Francis GA, Frohlich J, Brunham LR.

J Am Coll Cardiol. 2019 Jul 30;74(4):512-522. doi: 10.1016/j.jacc.2019.05.043.

PubMed [citation]

PMID:: 31345425

Details of each submission

From Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia, SCV001432654.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)
2	not provided	1	not provided	not provided	research	PubMed (2)

#	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
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine