NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) AND Hypercholesterolemia, familial, 1

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 1, 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:: RCV000256241.9

Allele description [Variation Report for NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)]

NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)

HGVS:

NC_000002.12:g.21014550T>C
NG_011793.1:g.34524A>G
NM_000384.3:c.3740A>GMANE SELECT
NP_000375.3:p.Tyr1247Cys
NC_000002.11:g.21237422T>C
NM_000384.2:c.3740A>G

Protein change:

Y1247C

Links:

dbSNP: rs61741164

NCBI 1000 Genomes Browser:

rs61741164

Molecular consequence:

NM_000384.3:c.3740A>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322842	Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 1, 2016)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 24234650

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322842

Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 1, 2016)

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	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

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

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Alves AC, Etxebarria A, Soutar AK, Martin C, Bourbon M.

Hum Mol Genet. 2014 Apr 1;23(7):1817-28. doi: 10.1093/hmg/ddt573. Epub 2013 Nov 13.

PubMed [citation]

PMID:: 24234650

Details of each submission

From Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000322842.1

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

Description

%MAF (ExAC):0.03131

"Heterozygous patient LDL, U937 cells proliferation; lymphocytes and HepG2 cells, FACS assays"

PubMed [ID: 24234650]

Description

2/96 normolipidaemic Portuguese controls

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

Last Updated: Apr 13, 2025

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