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NM_000384.3(APOB):c.12382G>A (p.Val4128Met) AND Hypercholesterolemia, autosomal dominant, type B

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 11, 2018
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:
RCV001143429.12

Allele description [Variation Report for NM_000384.3(APOB):c.12382G>A (p.Val4128Met)]

NM_000384.3(APOB):c.12382G>A (p.Val4128Met)

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.12382G>A (p.Val4128Met)
HGVS:
  • NC_000002.12:g.21003040C>T
  • NG_011793.1:g.46034G>A
  • NM_000384.3:c.12382G>AMANE SELECT
  • NP_000375.3:p.Val4128Met
  • NC_000002.11:g.21225912C>T
  • NM_000384.2:c.12382G>A
Protein change:
V4128M
Links:
Molecular consequence:
  • NM_000384.3:c.12382G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypercholesterolemia, autosomal dominant, type B (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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001303956Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(May 11, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.

Alex L, Chahil JK, Lye SH, Bagali P, Ler LW.

J Hum Genet. 2012 Jun;57(6):358-62. doi: 10.1038/jhg.2012.34. Epub 2012 Apr 26.

PubMed [citation]
PMID:
22534770

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001303956.1

#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: Apr 20, 2024