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NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000128649.1

Allele description [Variation Report for NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter)]

NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter)

Gene:
KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter)
HGVS:
  • NC_000010.11:g.75028701A>T
  • NG_032048.1:g.207289A>T
  • NM_001256468.2:c.3328A>T
  • NM_001256469.2:c.3001A>T
  • NM_001370132.1:c.2839A>T
  • NM_001370133.1:c.2188A>T
  • NM_001370134.1:c.1792A>T
  • NM_001370135.1:c.1534A>T
  • NM_001370136.1:c.3877A>T
  • NM_001370137.1:c.3877A>T
  • NM_001370138.1:c.3328A>T
  • NM_001370139.1:c.3001A>T
  • NM_001370140.1:c.3001A>T
  • NM_001370141.1:c.3001A>T
  • NM_001370142.1:c.3001A>T
  • NM_001370143.1:c.2812A>T
  • NM_001370144.1:c.2812A>T
  • NM_012330.4:c.3877A>TMANE SELECT
  • NP_001243397.1:p.Lys1110Ter
  • NP_001243398.1:p.Lys1001Ter
  • NP_001357061.1:p.Lys947Ter
  • NP_001357062.1:p.Lys730Ter
  • NP_001357063.1:p.Lys598Ter
  • NP_001357064.1:p.Lys512Ter
  • NP_001357065.1:p.Lys1293Ter
  • NP_001357066.1:p.Lys1293Ter
  • NP_001357067.1:p.Lys1110Ter
  • NP_001357068.1:p.Lys1001Ter
  • NP_001357069.1:p.Lys1001Ter
  • NP_001357070.1:p.Lys1001Ter
  • NP_001357071.1:p.Lys1001Ter
  • NP_001357072.1:p.Lys938Ter
  • NP_001357073.1:p.Lys938Ter
  • NP_036462.2:p.Lys1293Ter
  • NC_000010.10:g.76788459A>T
  • NM_012330.2:c.3877A>T
  • p.Lys1293X
Protein change:
K1001*
Links:
dbSNP: rs199470474
NCBI 1000 Genomes Browser:
rs199470474
Molecular consequence:
  • NM_001256468.2:c.3328A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256469.2:c.3001A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370132.1:c.2839A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370133.1:c.2188A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370134.1:c.1792A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370135.1:c.1534A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370136.1:c.3877A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370137.1:c.3877A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370138.1:c.3328A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370139.1:c.3001A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370140.1:c.3001A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370141.1:c.3001A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370142.1:c.3001A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370143.1:c.2812A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370144.1:c.2812A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012330.4:c.3877A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172289Lee Lab(KAT6B), Baylor College of Medicine
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.

Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.

PubMed [citation]
PMID:
22265017
PMCID:
PMC3276665

Details of each submission

From Lee Lab(KAT6B), Baylor College of Medicine, SCV000172289.1

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

Last Updated: Mar 26, 2023