NM_000527.5(LDLR):c.2191del (p.Val731fs) 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:: RCV000238029.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2191del (p.Val731fs)]

NM_000527.5(LDLR):c.2191del (p.Val731fs)

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.2191del (p.Val731fs)

HGVS:

NC_000019.10:g.11123224del
NG_009060.1:g.38844del
NM_000527.5:c.2191delMANE SELECT
NM_001195798.2:c.2191del
NM_001195799.2:c.2068del
NM_001195800.2:c.1687del
NM_001195803.2:c.1657del
NP_000518.1:p.Val731fs
NP_001182727.1:p.Val731fs
NP_001182728.1:p.Val690fs
NP_001182729.1:p.Val563fs
NP_001182732.1:p.Val553fs
LRG_274:g.38844del
NC_000019.9:g.11233900del
NC_000019.9:g.11233900delG
c.2191delG

Protein change:

V553fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001614; dbSNP: rs879255161

NCBI 1000 Genomes Browser:

rs879255161

Molecular consequence:

NM_000527.5:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.2068del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1687del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1657del - 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
SCV000295914	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

SCV000295914

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

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Komarova TY, Korneva VA, Kuznetsova TY, Golovina AS, Vasilyev VB, Mandelshtam MY.

BMC Med Genet. 2013 Dec 27;14:128. doi: 10.1186/1471-2350-14-128.

PubMed [citation]

PMID:: 24373485
PMCID:: PMC3877960

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295914.2

#	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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