NM_000527.5(LDLR):c.1571_1572del (p.Val524fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 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:: RCV000417352.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)]

NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)

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.1571_1572del (p.Val524fs)

HGVS:

NC_000019.10:g.11113747_11113748del
NG_009060.1:g.29367_29368del
NM_000527.5:c.1571_1572delMANE SELECT
NM_001195798.2:c.1571_1572del
NM_001195799.2:c.1448_1449del
NM_001195800.2:c.1067_1068del
NM_001195803.2:c.1190_1191del
NP_000518.1:p.Val524fs
NP_000518.1:p.Val524fs
NP_001182727.1:p.Val524fs
NP_001182728.1:p.Val483fs
NP_001182729.1:p.Val356fs
NP_001182732.1:p.Val397fs
LRG_274t1:c.1571_1572del
LRG_274:g.29367_29368del
LRG_274p1:p.Val524fs
NC_000019.9:g.11224423_11224424del
NM_000527.4:c.1571_1572del
p.Val524Glyfs*11

Protein change:

V356fs

Links:

dbSNP: rs1057519674

NCBI 1000 Genomes Browser:

rs1057519674

Molecular consequence:

NM_000527.5:c.1571_1572del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1571_1572del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1448_1449del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1067_1068del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1190_1191del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000503366	Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 16, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000503366

Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 16, 2016)

germline

clinical testing

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	2600	not provided	clinical testing

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

Details of each submission

From Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix, SCV000503366.1

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

Description

subject mutated among 2600 FH index cases screened = 1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	2600	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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