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NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 2017
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:
RCV000494309.3

Allele description [Variation Report for NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)]

NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)

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.5991T>A (p.Asp1997Glu)
HGVS:
  • NC_000002.12:g.21010877A>T
  • NG_011793.1:g.38197T>A
  • NM_000384.3:c.5991T>AMANE SELECT
  • NP_000375.3:p.Asp1997Glu
  • NC_000002.11:g.21233749A>T
  • NM_000384.2:c.5991T>A
Protein change:
D1997E
Links:
dbSNP: rs768045701
NCBI 1000 Genomes Browser:
rs768045701
Molecular consequence:
  • NM_000384.3:c.5991T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583313GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 30, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000583313.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the APOB gene. The D1997E variant has not been published as pathogenic or been reported as benign to our knowledge. Additionally, this variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, D1997E is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution also occurs at a position that is not conserved across species and glutamic acid (E) is the wild-type residue at this position in multiple mammalian species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.

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

Last Updated: Oct 26, 2024