NM_000384.3(APOB):c.2585T>C (p.Val862Ala) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely benign (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:: RCV000172972.11

Allele description [Variation Report for NM_000384.3(APOB):c.2585T>C (p.Val862Ala)]

NM_000384.3(APOB):c.2585T>C (p.Val862Ala)

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.2585T>C (p.Val862Ala)

HGVS:

NC_000002.12:g.21023544A>G
NG_011793.1:g.25530T>C
NM_000384.3:c.2585T>CMANE SELECT
NP_000375.3:p.Val862Ala
NC_000002.11:g.21246416A>G
NM_000384.2:c.2585T>C

Protein change:

V862A

Links:

dbSNP: rs145142090

NCBI 1000 Genomes Browser:

rs145142090

Molecular consequence:

NM_000384.3:c.2585T>C - 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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Rhizopus microsporus var. oligosporus strain KAS3569 18S ribosomal RNA (SSU) gene, partial sequence
gi|358001646|gb|JN939010.1|

Nucleotide
Rhizopus microsporus var. oligosporus beta-tubulin 3 (btub3) gene, partial cds
Rhizopus microsporus var. oligosporus beta-tubulin 3 (btub3) gene, partial cds
gi|6934191|gb|AF162066.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000212150	Institute for Integrative and Experimental Genomics, University of Luebeck	criteria provided, single submitter (Submitter's publication)	Likely benign	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000212150

Institute for Integrative and Experimental Genomics, University of Luebeck

criteria provided, single submitter

(Submitter's publication)

Likely benign

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	1	not provided	not provided	not provided	research

Citations

PubMed

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I, Kleinecke M, Reiz B, Graf E, Strom T, Wieland T, Fischer M, Kessler T, Hengstenberg C, Meitinger T, Erdmann J, Schunkert H.

Eur J Hum Genet. 2016 Feb;24(2):191-7. doi: 10.1038/ejhg.2015.100. Epub 2015 Jun 3.

PubMed [citation]

PMID:: 26036859
PMCID:: PMC4717192

Details of each submission

From Institute for Integrative and Experimental Genomics, University of Luebeck, SCV000212150.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Oct 13, 2024

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