NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) AND Familial hypercholesterolemia

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001293735.1

Allele description [Variation Report for NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)]

NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)

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.905G>A (p.Cys302Tyr)

HGVS:

NC_000019.10:g.11107479G>A
NG_009060.1:g.23099G>A
NM_000527.5:c.905G>AMANE SELECT
NM_001195798.2:c.905G>A
NM_001195799.2:c.782G>A
NM_001195800.2:c.401G>A
NM_001195803.2:c.524G>A
NP_000518.1:p.Cys302Tyr
NP_000518.1:p.Cys302Tyr
NP_001182727.1:p.Cys302Tyr
NP_001182728.1:p.Cys261Tyr
NP_001182729.1:p.Cys134Tyr
NP_001182732.1:p.Cys175Tyr
LRG_274t1:c.905G>A
LRG_274:g.23099G>A
LRG_274p1:p.Cys302Tyr
NC_000019.9:g.11218155G>A
NM_000527.4:c.905G>A
P01130:p.Cys302Tyr
c.905G>A

Protein change:

C134Y

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000455; UniProtKB: P01130#VAR_005353; dbSNP: rs879254715

NCBI 1000 Genomes Browser:

rs879254715

Molecular consequence:

NM_000527.5:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.524G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial hypercholesterolemia (FH)
Identifiers:: MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001482445	Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	research	PubMed (2) [See all records that cite these PMIDs] 29261184, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001482445

Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.

Chora JR, Medeiros AM, Alves AC, Bourbon M.

Genet Med. 2018 Jun;20(6):591-598. doi: 10.1038/gim.2017.151. Epub 2017 Oct 26.

PubMed [citation]

PMID:: 29261184

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 Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine, SCV001482445.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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