NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 1, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000842212.4

Allele description [Variation Report for NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile)]

NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile)

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.11354C>T (p.Thr3785Ile)
HGVS:
  • NC_000002.12:g.21005514G>A
  • NG_011793.1:g.43560C>T
  • NM_000384.3:c.11354C>TMANE SELECT
  • NP_000375.3:p.Thr3785Ile
  • NC_000002.11:g.21228386G>A
  • NM_000384.2:c.11354C>T
Protein change:
T3785I
Links:
dbSNP: rs143710616
NCBI 1000 Genomes Browser:
rs143710616
Molecular consequence:
  • NM_000384.3:c.11354C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000984212GeneDxcriteria provided, single submitter
Likely benign
(Apr 19, 2018)
germlineclinical testing

Citation Link,

SCV001371386CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Apr 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000984212.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001371386.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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