NM_000527.5(LDLR):c.310_313del (p.Cys104fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 25, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000237601.2

Allele description [Variation Report for NM_000527.5(LDLR):c.310_313del (p.Cys104fs)]

NM_000527.5(LDLR):c.310_313del (p.Cys104fs)

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.310_313del (p.Cys104fs)

HGVS:

NC_000019.10:g.11102783_11102786del
NG_009060.1:g.18403_18406del
NM_000527.5:c.310_313delMANE SELECT
NM_001195798.2:c.310_313del
NM_001195799.2:c.191-2437_191-2434del
NM_001195800.2:c.312_315del
NM_001195803.2:c.310_313del
NP_000518.1:p.Cys104fs
NP_000518.1:p.Cys104fs
NP_001182727.1:p.Cys104fs
NP_001182729.1:p.Gly103_Cys104insTer
NP_001182732.1:p.Cys104fs
LRG_274t1:c.310_313del
LRG_274:g.18403_18406del
LRG_274p1:p.Cys104fs
NC_000019.9:g.11213459_11213462del
NM_000527.4:c.310_313del
c.310_313del

Protein change:

C104fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001690; dbSNP: rs879254463

NCBI 1000 Genomes Browser:

rs879254463

Molecular consequence:

NM_000527.5:c.310_313del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.310_313del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.310_313del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.191-2437_191-2434del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195800.2:c.312_315del - nonsense - [Sequence Ontology: SO:0001587]

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

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Homo sapiens sulfotransferase family, cytosolic, 1C, member 4, mRNA (cDNA clone ...
Homo sapiens sulfotransferase family, cytosolic, 1C, member 4, mRNA (cDNA clone MGC:149521 IMAGE:40115974), complete cds
gi|115527985|gb|BC125043.1|

Nucleotide
RecName: Full=Olfactory receptor 8H2; AltName: Full=Olfactory receptor OR11-171
RecName: Full=Olfactory receptor 8H2; AltName: Full=Olfactory receptor OR11-171
gi|38372643|sp|Q8N162.1|OR8H2_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294596	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19318025, 26020417 Citation Link,
SCV000322887	Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294596

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000322887

Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 1, 2016)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	2	not provided	research, literature only

Citations

PubMed

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]

PMID:: 19318025

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Medeiros AM, Alves AC, Bourbon M.

Genet Med. 2016 Apr;18(4):316-24. doi: 10.1038/gim.2015.71. Epub 2015 May 28.

PubMed [citation]

PMID:: 26020417

See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294596.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (2)
2	not provided	1	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

From Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000322887.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)
2	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

0/95 non-FH individuals

#	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		not provided	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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