NM_000527.5(LDLR):c.1070del (p.Glu357fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 18, 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:: RCV000508768.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1070del (p.Glu357fs)]

NM_000527.5(LDLR):c.1070del (p.Glu357fs)

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.1070del (p.Glu357fs)

HGVS:

NC_000019.10:g.11111523del
NG_009060.1:g.27143del
NM_000527.5:c.1070delMANE SELECT
NM_001195798.2:c.1070del
NM_001195799.2:c.947del
NM_001195800.2:c.566del
NM_001195803.2:c.689del
NP_000518.1:p.Glu357fs
NP_001182727.1:p.Glu357fs
NP_001182728.1:p.Glu316fs
NP_001182729.1:p.Glu189fs
NP_001182732.1:p.Glu230fs
LRG_274:g.27143del
NC_000019.9:g.11222199del
NM_000527.4:c.1070delA

Protein change:

E189fs

Links:

LOVD 3: LDLR_001909; dbSNP: rs1555804717

NCBI 1000 Genomes Browser:

rs1555804717

Molecular consequence:

NM_000527.5:c.1070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.566del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.689del - 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

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
SCV000599980	Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - FH001 INDIA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 18, 2016)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 27816806

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599980

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - FH001 INDIA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 18, 2016)

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
Asian Indian	germline	yes	1	not provided	not provided	not provided	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

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Setia N, Saxena R, Arora A, Verma IC.

Atherosclerosis. 2016 Dec;255:31-36. doi: 10.1016/j.atherosclerosis.2016.10.028. Epub 2016 Oct 14.

PubMed [citation]

PMID:: 27816806

Details of each submission

From Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - FH001 INDIA, SCV000599980.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian Indian	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	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine