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NM_000527.5(LDLR):c.-121T>C AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2022
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:
RCV002223821.1

Allele description [Variation Report for NM_000527.5(LDLR):c.-121T>C]

NM_000527.5(LDLR):c.-121T>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:
NM_000527.5(LDLR):c.-121T>C
HGVS:
  • NC_000019.10:g.11089428T>C
  • NG_009060.1:g.5048T>C
  • NM_000527.5:c.-121T>CMANE SELECT
  • LRG_274t1:c.-121T>C
  • LRG_274:g.5048T>C
  • NC_000019.9:g.11200104T>C
  • NM_000527.4:c.-121T>C
  • NR_163945.1:n.232A>G
  • c.-121T>C
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000002; dbSNP: rs777716188
NCBI 1000 Genomes Browser:
rs777716188
Molecular consequence:
  • NR_163945.1:n.232A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000527.5:c.-121T>C - upstream transcript variant - [Sequence Ontology: SO:0001986]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002502835AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RD, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE.

Clin Genet. 2010 Jun;77(6):572-80. doi: 10.1111/j.1399-0004.2009.01356.x. Epub 2010 Mar 13.

PubMed [citation]
PMID:
20236128

Population genetic screening efficiently identifies carriers of autosomal dominant diseases.

Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, et al.

Nat Med. 2020 Aug;26(8):1235-1239. doi: 10.1038/s41591-020-0982-5. Epub 2020 Jul 27.

PubMed [citation]
PMID:
32719484
See all PubMed Citations (7)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002502835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024