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NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (4 submissions)
Last evaluated:
Aug 19, 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:
RCV000211622.9

Allele description [Variation Report for NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)]

NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)

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.224G>A (p.Cys75Tyr)
HGVS:
  • NC_000019.10:g.11102697G>A
  • NG_009060.1:g.18317G>A
  • NM_000527.5:c.224G>AMANE SELECT
  • NM_001195798.2:c.224G>A
  • NM_001195799.2:c.190+2352G>A
  • NM_001195800.2:c.224G>A
  • NM_001195803.2:c.224G>A
  • NP_000518.1:p.Cys75Tyr
  • NP_000518.1:p.Cys75Tyr
  • NP_001182727.1:p.Cys75Tyr
  • NP_001182729.1:p.Cys75Tyr
  • NP_001182732.1:p.Cys75Tyr
  • LRG_274t1:c.224G>A
  • LRG_274:g.18317G>A
  • LRG_274p1:p.Cys75Tyr
  • NC_000019.9:g.11213373G>A
  • NM_000527.4:c.224G>A
  • c.224G>A
Protein change:
C75Y
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000686; dbSNP: rs875989890
NCBI 1000 Genomes Browser:
rs875989890
Molecular consequence:
  • NM_001195799.2:c.190+2352G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000268542Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital
no assertion criteria provided
Pathogenic
(Jun 21, 2013) 		germlineclinical testing

SCV000294536LDLR-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,

SCV000606043Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
no assertion criteria provided
Pathogenicgermlineresearch

SCV002579490MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 19, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided1not providedclinical testing, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia.

Geisel J, Gielen J, Oette K, Herrmann W, Wielckens K.

Clin Chem Lab Med. 1998 May;36(5):279-82.

PubMed [citation]
PMID:
9676383

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268542.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences

From LDLR-LOVD, British Heart Foundation, SCV000294536.2

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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606043.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From MGZ Medical Genetics Center, SCV002579490.1

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

Last Updated: May 7, 2024