NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 25, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000238060.3

Allele description [Variation Report for NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)]

NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)

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.581_582insA (p.Ser194fs)

HGVS:

NC_000019.10:g.11105487_11105488insA
NG_009060.1:g.21107_21108insA
NM_000527.5:c.581_582insAMANE SELECT
NM_001195798.2:c.581_582insA
NM_001195799.2:c.458_459insA
NM_001195800.2:c.314-1905_314-1904insA
NM_001195803.2:c.314-1078_314-1077insA
NP_000518.1:p.Ser194fs
NP_000518.1:p.Ser194fs
NP_001182727.1:p.Ser194fs
NP_001182728.1:p.Ser153fs
LRG_274t1:c.581_582insA
LRG_274:g.21107_21108insA
LRG_274p1:p.Ser194fs
NC_000019.9:g.11216163_11216164insA
NM_000527.4:c.581_582insA
c.581_582insA

Protein change:

S153fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000080; dbSNP: rs879254581

NCBI 1000 Genomes Browser:

rs879254581

Molecular consequence:

NM_000527.5:c.581_582insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.581_582insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.458_459insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.314-1905_314-1904insA - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1078_314-1077insA - 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
SCV000294801	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,
SCV000748166	Iberoamerican FH Network	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294801

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,

SCV000748166

Iberoamerican FH Network

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 1, 2016)

germline

research

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	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.

Arráiz N, Bermúdez V, Rondon N, Reyes F, Borjas L, Solís E, Mujica E, Prieto C, Reyna N, Velasco M.

Am J Ther. 2010 May-Jun;17(3):325-9. doi: 10.1097/MJT.0b013e3181c1234d.

PubMed [citation]

PMID:: 20019594

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 LDLR-LOVD, British Heart Foundation, SCV000294801.2

#	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

From Iberoamerican FH Network, SCV000748166.1

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

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

Last Updated: May 7, 2024

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