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NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 24, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000505209.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)]

NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)

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.1130G>T (p.Cys377Phe)
HGVS:
  • NC_000019.10:g.11111583G>T
  • NG_009060.1:g.27203G>T
  • NM_000527.5:c.1130G>TMANE SELECT
  • NM_001195798.2:c.1130G>T
  • NM_001195799.2:c.1007G>T
  • NM_001195800.2:c.626G>T
  • NM_001195803.2:c.749G>T
  • NP_000518.1:p.Cys377Phe
  • NP_000518.1:p.Cys377Phe
  • NP_001182727.1:p.Cys377Phe
  • NP_001182728.1:p.Cys336Phe
  • NP_001182729.1:p.Cys209Phe
  • NP_001182732.1:p.Cys250Phe
  • LRG_274t1:c.1130G>T
  • LRG_274:g.27203G>T
  • LRG_274p1:p.Cys377Phe
  • NC_000019.9:g.11222259G>T
  • NM_000527.4:c.1130G>T
  • p.(Cys377Phe)
Protein change:
C209F
Links:
dbSNP: rs879254801
NCBI 1000 Genomes Browser:
rs879254801
Molecular consequence:
  • NM_000527.5:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1007G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.626G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.749G>T - missense variant - [Sequence Ontology: SO:0001583]
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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599362Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 1, 2016)
germline, not applicablecuration, literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001653623Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(May 24, 2021)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providednot applicablenot applicablenot providednot providednot providednot providednot providedliterature only
Caucasiangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Romano M, Di Taranto MD, Mirabelli P, D'Agostino MN, Iannuzzi A, Marotta G, Gentile M, Raia M, Di Noto R, Del Vecchio L, Rubba P, Fortunato G.

J Lipid Res. 2011 Nov;52(11):2095-100. doi: 10.1194/jlr.D017772. Epub 2011 Aug 24.

PubMed [citation]
PMID:
21865347
PMCID:
PMC3196240

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.

Bertolini S, Calandra S, Arca M, Averna M, Catapano AL, Tarugi P; Italian Study Group of Homozygous Familial Hypercholesterolemia..

Atherosclerosis. 2020 Nov;312:72-78. doi: 10.1016/j.atherosclerosis.2020.08.027. Epub 2020 Sep 9.

PubMed [citation]
PMID:
32977124
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000599362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
2not providednot providednot providednot providedliterature only PubMed (2)

Description

"Assay Description:Htz patients' Epstein-Barr virus transformed lymphocytes, FACS assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II, SCV001653623.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian2not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jun 23, 2024