NM_000527.5(LDLR):c.1164del (p.His388fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 17, 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:: RCV002323293.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1164del (p.His388fs)]

NM_000527.5(LDLR):c.1164del (p.His388fs)

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.1164del (p.His388fs)

HGVS:

NC_000019.10:g.11111617del
NG_009060.1:g.27237del
NM_000527.5:c.1164delMANE SELECT
NM_001195798.2:c.1164del
NM_001195799.2:c.1041del
NM_001195800.2:c.660del
NM_001195803.2:c.783del
NP_000518.1:p.His388Glnfs
NP_000518.1:p.His388fs
NP_001182727.1:p.His388fs
NP_001182728.1:p.His347fs
NP_001182729.1:p.His220fs
NP_001182732.1:p.His261fs
LRG_274t1:c.1164del
LRG_274:g.27237del
LRG_274p1:p.His388Glnfs
NC_000019.9:g.11222293del
NM_000527.4:c.1164delC

Protein change:

H220fs

Molecular consequence:

NM_000527.5:c.1164del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1164del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1041del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.660del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.783del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002632359	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 17, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002632359

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 17, 2019)

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, SCV002632359.2

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

Description

The c.1164delC pathogenic mutation, located in coding exon 8 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 1164, causing a translational frameshift with a predicted alternate stop codon (p.H388Qfs*25). 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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