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NM_000527.5(LDLR):c.364A>T (p.Ile122Phe) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 25, 2016
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:
RCV000237579.1

Allele description [Variation Report for NM_000527.5(LDLR):c.364A>T (p.Ile122Phe)]

NM_000527.5(LDLR):c.364A>T (p.Ile122Phe)

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.364A>T (p.Ile122Phe)
HGVS:
  • NC_000019.10:g.11105270A>T
  • NG_009060.1:g.20890A>T
  • NM_000527.5:c.364A>TMANE SELECT
  • NM_001195798.2:c.364A>T
  • NM_001195799.2:c.241A>T
  • NM_001195800.2:c.314-2122A>T
  • NM_001195803.2:c.314-1295A>T
  • NP_000518.1:p.Ile122Phe
  • NP_001182727.1:p.Ile122Phe
  • NP_001182728.1:p.Ile81Phe
  • LRG_274:g.20890A>T
  • NC_000019.9:g.11215946A>T
  • c.364A>T
Protein change:
I122F
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000653; dbSNP: rs879254493
NCBI 1000 Genomes Browser:
rs879254493
Molecular consequence:
  • NM_001195800.2:c.314-2122A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1295A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.364A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.364A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.241A>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294659LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely pathogenic
(Mar 25, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

Mak YT, Pang CP, Tomlinson B, Zhang J, Chan YS, Mak TW, Masarei JR.

Arterioscler Thromb Vasc Biol. 1998 Oct;18(10):1600-5.

PubMed [citation]
PMID:
9763532

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294659.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023