NM_000527.5(LDLR):c.581del (p.Ser194fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2021
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:: RCV002356967.2

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

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

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.581del (p.Ser194fs)

HGVS:

NC_000019.10:g.11105487del
NG_009060.1:g.21107del
NM_000527.5:c.581delMANE SELECT
NM_001195798.2:c.581del
NM_001195799.2:c.458del
NM_001195800.2:c.314-1905del
NM_001195803.2:c.314-1078del
NP_000518.1:p.Ser194fs
NP_001182727.1:p.Ser194fs
NP_001182728.1:p.Ser153fs
LRG_274t1:c.581del
LRG_274:g.21107del
NC_000019.9:g.11216163del
NM_000527.4:c.581del
NM_000527.4:c.581delG

Protein change:

S153fs

Links:

dbSNP: rs2077276693

NCBI 1000 Genomes Browser:

rs2077276693

Molecular consequence:

NM_000527.5:c.581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.458del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.314-1905del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1078del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002649773	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002649773

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 1, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002649773.2

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

Description

The c.581delG pathogenic mutation, located in coding exon 4 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 581, causing a translational frameshift with a predicted alternate stop codon (p.S194Ifs*12). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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 1, 2024

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