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NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 11, 2019
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:
RCV002444846.2

Allele description [Variation Report for NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)]

NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)
HGVS:
  • NC_000019.10:g.11102777C>T
  • NG_009060.1:g.18397C>T
  • NM_000527.5:c.304C>TMANE SELECT
  • NM_001195798.2:c.304C>T
  • NM_001195799.2:c.190+2432C>T
  • NM_001195800.2:c.304C>T
  • NM_001195803.2:c.304C>T
  • NP_000518.1:p.Gln102Ter
  • NP_000518.1:p.Gln102Ter
  • NP_001182727.1:p.Gln102Ter
  • NP_001182729.1:p.Gln102Ter
  • NP_001182732.1:p.Gln102Ter
  • LRG_274t1:c.304C>T
  • LRG_274:g.18397C>T
  • LRG_274p1:p.Gln102Ter
  • NC_000019.9:g.11213453C>T
  • NM_000527.4:c.304C>T
  • c.304C>T
  • p.(Gln102*)
  • p.Gln102*
Protein change:
Q102*
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001689; dbSNP: rs563390335
NCBI 1000 Genomes Browser:
rs563390335
Molecular consequence:
  • NM_001195799.2:c.190+2432C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.304C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.304C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.304C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.304C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002753557Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 11, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Hobbs HH, Brown MS, Goldstein JL.

Hum Mutat. 1992;1(6):445-66. Review.

PubMed [citation]
PMID:
1301956

Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

Campagna F, Martino F, Bifolco M, Montali A, Martino E, Morrone F, Antonini R, Cantafora A, Verna R, Arca M.

Atherosclerosis. 2008 Jan;196(1):356-364. doi: 10.1016/j.atherosclerosis.2006.11.015. Epub 2006 Dec 28.

PubMed [citation]
PMID:
17196209
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002753557.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.Q102* pathogenic mutation (also known as c.304C>T), located in coding exon 3 of the LDLR gene, results from a C to T substitution at nucleotide position 304. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This mutation (also referred to as FH Raponi and Q81X) has been reported in several individuals from hypercholesterolemia cohorts, and was reported to segregate with hypercholesterolemia in a family (Hobbs HH et al. Hum Mutat. 1992;1:445-66; Campagna F et al. Atherosclerosis. 2008 Jan;196:356-64; Junyent M et al. Arterioscler Thromb Vasc Biol. 2008 Mar;28:580-6; Romano M et al. Atherosclerosis. 2010 Jun;210:493-6; Bertolini S et al. Atherosclerosis. 2013 Apr;227:342-8; Pirillo A et al. Atheroscler Suppl. 2017 Oct;29:17-24). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024