NM_000527.5(LDLR):c.1946del (p.Pro649fs) 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:: RCV000237734.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1946del (p.Pro649fs)]

NM_000527.5(LDLR):c.1946del (p.Pro649fs)

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.1946del (p.Pro649fs)

HGVS:

NC_000019.10:g.11120192del
NG_009060.1:g.35812del
NM_000527.5:c.1946delMANE SELECT
NM_001195798.2:c.1946del
NM_001195799.2:c.1823del
NM_001195800.2:c.1442del
NM_001195803.2:c.1565del
NP_000518.1:p.Pro649fs
NP_001182727.1:p.Pro649fs
NP_001182728.1:p.Pro608fs
NP_001182729.1:p.Pro481fs
NP_001182732.1:p.Pro522fs
LRG_274:g.35812del
NC_000019.9:g.11230868del
NC_000019.9:g.11230868delC
c.1946delC

Protein change:

P481fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000971; dbSNP: rs879255082

NCBI 1000 Genomes Browser:

rs879255082

Molecular consequence:

NM_000527.5:c.1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1823del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1442del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1565del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295765	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

SCV000295765

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

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

Bunn CF, Lintott CJ, Scott RS, George PM.

Hum Mutat. 2002 Mar;19(3):311.

PubMed [citation]

PMID:: 11857755

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295765.2

#	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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