NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000995407.2

Allele description [Variation Report for NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)]

NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)

Genes:
CPEB1-AS1:CPEB1 antisense RNA 1 [Gene - HGNC]
AP3B2:adaptor related protein complex 3 subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.2
Genomic location:
Preferred name:
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)
HGVS:
  • NC_000015.10:g.82680646T>G
  • NG_052957.1:g.34263A>C
  • NM_001278511.2:c.785A>C
  • NM_001278512.2:c.881A>CMANE SELECT
  • NM_004644.5:c.881A>C
  • NP_001265440.1:p.Lys262Thr
  • NP_001265441.1:p.Lys294Thr
  • NP_004635.2:p.Lys294Thr
  • NC_000015.9:g.83349398T>G
Protein change:
K262T
Links:
dbSNP: rs200983489
NCBI 1000 Genomes Browser:
rs200983489
Molecular consequence:
  • NM_001278511.2:c.785A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278512.2:c.881A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004644.5:c.881A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001149550CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001149550.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Oct 24, 2021

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