NC_000019.10:g.11089448T>C AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 13, 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:: RCV001800603.9

Allele description [Variation Report for NC_000019.10:g.11089448T>C]

NC_000019.10:g.11089448T>C

Genes:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NC_000019.10:g.11089448T>C

HGVS:

NC_000019.10:g.11089448T>C
NG_009060.1:g.5068T>C
NM_000527.4:c.-101T>C
NM_001195798.1:c.-101T>C
NM_001195799.1:c.-101T>C
NM_001195800.1:c.-101T>C
NM_001195803.1:c.-101T>C
LRG_274t1:c.-101T>C
LRG_274:g.5068T>C
NC_000019.9:g.11200124T>C
NR_163945.1:n.212A>G
c.-101T>C

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000001; dbSNP: rs747068848

NCBI 1000 Genomes Browser:

rs747068848

Molecular consequence:

NR_163945.1:n.212A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002046577	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Jan 13, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25248394, 31395865, 22881376, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002046577

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Jan 13, 2021)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.

Khamis A, Palmen J, Lench N, Taylor A, Badmus E, Leigh S, Humphries SE.

Eur J Hum Genet. 2015 Jun;23(6):790-5. doi: 10.1038/ejhg.2014.199. Epub 2014 Sep 24.

PubMed [citation]

PMID:: 25248394
PMCID:: PMC4277481

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N.

Nat Commun. 2019 Aug 8;10(1):3583. doi: 10.1038/s41467-019-11526-w.

PubMed [citation]

PMID:: 31395865
PMCID:: PMC6687891

See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046577.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Nov 3, 2024

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