NM_000384.3(APOB):c.11761G>A (p.Val3921Ile) AND Familial hypercholesterolemia 2

Clinical significance:Likely benign (Last evaluated: Jan 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001139228.1

Allele description [Variation Report for NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)]

NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)

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.11761G>A (p.Val3921Ile)
HGVS:
  • NC_000002.12:g.21005107C>T
  • NG_011793.1:g.43967G>A
  • NM_000384.3:c.11761G>AMANE SELECT
  • NP_000375.3:p.Val3921Ile
  • NC_000002.11:g.21227979C>T
  • NM_000384.2:c.11761G>A
Protein change:
V3921I
Links:
Molecular consequence:
  • NM_000384.3:c.11761G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia 2 (FHCL2)
Synonyms:
APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007751; MedGen: C1704417; OMIM: 144010

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001299348Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jan 29, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.

Leren TP, Bakken KS, Hoel V, Hjermann I, Berg K.

Hum Genet. 1998 Jan;102(1):44-9.

PubMed [citation]
PMID:
9490296

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001299348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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