NM_000527.5(LDLR):c.353del (p.Asp118fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 2019
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:: RCV001508838.5

Allele description [Variation Report for NM_000527.5(LDLR):c.353del (p.Asp118fs)]

NM_000527.5(LDLR):c.353del (p.Asp118fs)

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.353del (p.Asp118fs)

HGVS:

NC_000019.10:g.11105259del
NG_009060.1:g.20879del
NM_000527.5:c.353delMANE SELECT
NM_001195798.2:c.353del
NM_001195799.2:c.230del
NM_001195800.2:c.314-2133del
NM_001195803.2:c.314-1306del
NP_000518.1:p.Asp118fs
NP_001182727.1:p.Asp118fs
NP_001182728.1:p.Asp77fs
LRG_274:g.20879del
NC_000019.9:g.11215935del
NC_000019.9:g.11215935delA
NM_000527.4:c.353delA
c.353delA
p.Asp118Valfs*88

Protein change:

D118fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000384; dbSNP: rs879254488

NCBI 1000 Genomes Browser:

rs879254488

Molecular consequence:

NM_000527.5:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.314-2133del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1306del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001715237	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 8, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10208479, 11313767, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001715237

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 8, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

Heath KE, Gudnason V, Humphries SE, Seed M.

Atherosclerosis. 1999 Mar;143(1):41-54.

PubMed [citation]

PMID:: 10208479

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Heath KE, Humphries SE, Middleton-Price H, Boxer M.

Eur J Hum Genet. 2001 Apr;9(4):244-52.

PubMed [citation]

PMID:: 11313767

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715237.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

PVS1, PM2

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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