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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2019
Accession:
VCV000807299.8
Variation ID:
807299
Description:
single nucleotide variant
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NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)

Allele ID
797206
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q25.2
Genomic location
15: 82680646 (GRCh38) GRCh38 UCSC
15: 83349398 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.82680646T>G
NC_000015.9:g.83349398T>G
NG_052957.1:g.34263A>C
... more HGVS
Protein change
K262T, K294T
Other names
-
Canonical SPDI
NC_000015.10:82680645:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
The Genome Aggregation Database (gnomAD) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00024
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00044
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00032
Links
dbSNP: rs200983489
VarSome
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AP3B2 - - GRCh38
GRCh37
2 109
CPEB1-AS1 - - - GRCh38 - 79

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 04, 2019)
criteria provided, single submitter
Method: clinical testing
Autistic disorder of childhood onset
Gastroesophageal reflux
Delayed speech and language development
Feeding difficulties
Generalized hypotonia
Neurological speech impairment
Microcephaly
Abnormality of eye movement
Global developmental delay
Muscular hypotonia
Allele origin: germline
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448772.1
Submitted: (Sep 02, 2020)
Evidence details
Uncertain significance
(May 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001149550.7
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200983489...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021