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

Clinical significance:Uncertain significance (Last evaluated: Mar 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001270044.1

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_001278511.1: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_001278511.1: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:
1

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Global developmental delay (DD)
Synonyms:
Cognitive delay; Delayed cognitive development; Delayed development; See all synonyms [MedGen]
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Feeding difficulties
Synonyms:
Feeding problems; Poor feeding
Identifiers:
MedGen: C0232466; Human Phenotype Ontology: HP:0011968
Name:
Delayed speech and language development
Synonyms:
Deficiency of speech development; Delayed language development; Delayed speech acquisition; See all synonyms [MedGen]
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Microcephaly
Synonyms:
Reduced head circumference; Small head circumference; small calvarium; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Abnormality of eye movement
Synonyms:
Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; See all synonyms [MedGen]
Identifiers:
MedGen: C0497202; Human Phenotype Ontology: HP:0000496
Name:
Generalized hypotonia
Synonyms:
Generalized muscular hypotonia; Decreased muscle tone; Low muscle tone
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Gastroesophageal reflux
Synonyms:
Acid reflux disease; Heartburn; Acid reflux
Identifiers:
MedGen: C4317146; Human Phenotype Ontology: HP:0002020
Name:
Neurological speech impairment
Synonyms:
Speech disorder; Speech impairment; Speech impediment
Identifiers:
MONDO: MONDO:0004730; MedGen: C0037822; Human Phenotype Ontology: HP:0002167
Name:
Muscular hypotonia
Synonyms:
Muscle hypotonia
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001448772Knight Diagnostic Laboratories, Oregon Health and Sciences Universitycriteria provided, single submitter
Uncertain significance
(Mar 4, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448772.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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