U.S. flag

An official website of the United States government

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:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001715237Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 8, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024