U.S. flag

An official website of the United States government

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:
2

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052784Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
uncertain
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided
3not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteLDLR:c.1773C>T, LDLR:c.1060+10G>C, LDLR:c.2232A>G, LDLR:c.1959T>C, LDLR:c.1413A>G, LDLR:c.362G>A1
3SingleHeterozygoteLDLR:c.1773C>T, LDLR:c.1060+10G>C, LDLR:c.2232A>G, LDLR:c.1959T>C, LDLR:c.1413A>G, LDLR:c.362G>A1

Last Updated: Sep 29, 2024