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NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 2024
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:
RCV002383985.6

Allele description [Variation Report for NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)]

NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)

Gene:
APOB:apolipoprotein B [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
HGVS:
  • NC_000002.11:g.21225267_21225268del
  • NC_000002.12:g.21002393AT[1]
  • NG_011793.1:g.46678AT[1]
  • NM_000384.3:c.13028_13029delMANE SELECT
  • NP_000375.3:p.Tyr4343fs
  • NC_000002.11:g.21225265AT[1]
  • NC_000002.11:g.21225265_21225266del
  • NC_000002.11:g.21225267_21225268del
  • NM_000384.2:c.13028_13029delAT
  • NM_000384.3:c.13028_13029delATMANE SELECT
Protein change:
Y4343fs
Links:
dbSNP: rs760832994
NCBI 1000 Genomes Browser:
rs760832994
Molecular consequence:
  • NM_000384.3:c.13028_13029del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002692494Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 8, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular description of familial defective APOB-100 in Malaysia.

Al-Khateeb AR, Mohd MS, Yusof Z, Zilfalil BA.

Biochem Genet. 2013 Oct;51(9-10):811-23. doi: 10.1007/s10528-013-9609-6. Epub 2013 Jun 18.

PubMed [citation]
PMID:
23775634

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR.

J Lipid Res. 2022 Jun;63(6):100209. doi: 10.1016/j.jlr.2022.100209. Epub 2022 Apr 20.

PubMed [citation]
PMID:
35460704
PMCID:
PMC9126845
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002692494.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024