NM_000527.5(LDLR):c.1706-21_1706-19del AND Hypercholesterolemia, familial, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000030129.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1706-21_1706-19del]

NM_000527.5(LDLR):c.1706-21_1706-19del

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.1706-21_1706-19del

HGVS:

NC_000019.10:g.11116838_11116840del
NG_009060.1:g.32458_32460del
NM_000527.5:c.1706-21_1706-19delMANE SELECT
NM_001195798.2:c.1706-21_1706-19del
NM_001195799.2:c.1583-21_1583-19del
NM_001195800.2:c.1202-21_1202-19del
NM_001195803.2:c.1325-21_1325-19del
LRG_274:g.32458_32460del
NC_000019.9:g.11227514_11227516del
NC_000019.9:g.11227514_11227516del
NM_000527.4:c.1706-21delCTT

Links:

dbSNP: rs386134242

NCBI 1000 Genomes Browser:

rs386134242

Molecular consequence:

NM_000527.5:c.1706-21_1706-19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195798.2:c.1706-21_1706-19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195799.2:c.1583-21_1583-19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195800.2:c.1202-21_1202-19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.1325-21_1325-19del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052784	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	uncertain (Aug 18, 2011)	germline	curation, clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052784

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

uncertain
(Aug 18, 2011)

germline

curation, clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052784.2

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

Description

Converted during submission to Uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	LDLR:c.1773C>T, LDLR:c.1060+10G>C, LDLR:c.2232A>G, LDLR:c.1959T>C, LDLR:c.1413A>G, LDLR:c.362G>A	1
3	SingleHeterozygote	LDLR:c.1773C>T, LDLR:c.1060+10G>C, LDLR:c.2232A>G, LDLR:c.1959T>C, LDLR:c.1413A>G, LDLR:c.362G>A	1

Last Updated: Sep 29, 2024

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