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NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000626909.4

Allele description [Variation Report for NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)]

NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)

Gene:
KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)
HGVS:
  • NC_000010.11:g.75024984_75024987del
  • NG_032048.1:g.203572_203575del
  • NM_001256468.2:c.2850_2853del
  • NM_001256469.2:c.2523_2526del
  • NM_001370132.1:c.2361_2364del
  • NM_001370133.1:c.1710_1713del
  • NM_001370134.1:c.1314_1317del
  • NM_001370135.1:c.1056_1059del
  • NM_001370136.1:c.3399_3402del
  • NM_001370137.1:c.3399_3402del
  • NM_001370138.1:c.2850_2853del
  • NM_001370139.1:c.2523_2526del
  • NM_001370140.1:c.2523_2526del
  • NM_001370141.1:c.2523_2526del
  • NM_001370142.1:c.2523_2526del
  • NM_001370143.1:c.2334_2337del
  • NM_001370144.1:c.2334_2337del
  • NM_012330.4:c.3399_3402delMANE SELECT
  • NP_001243397.1:p.Arg950fs
  • NP_001243398.1:p.Arg841fs
  • NP_001357061.1:p.Arg787fs
  • NP_001357062.1:p.Arg570fs
  • NP_001357063.1:p.Arg438fs
  • NP_001357064.1:p.Arg352fs
  • NP_001357065.1:p.Arg1133fs
  • NP_001357066.1:p.Arg1133fs
  • NP_001357067.1:p.Arg950fs
  • NP_001357068.1:p.Arg841fs
  • NP_001357069.1:p.Arg841fs
  • NP_001357070.1:p.Arg841fs
  • NP_001357071.1:p.Arg841fs
  • NP_001357072.1:p.Arg778fs
  • NP_001357073.1:p.Arg778fs
  • NP_036462.2:p.Arg1133fs
  • NC_000010.10:g.76784742_76784745del
  • NM_012330.3:c.3399_3402delGGGT
Protein change:
R1133fs
Links:
dbSNP: rs1554844486
NCBI 1000 Genomes Browser:
rs1554844486
Molecular consequence:
  • NM_001256468.2:c.2850_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256469.2:c.2523_2526del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370132.1:c.2361_2364del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370133.1:c.1710_1713del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370134.1:c.1314_1317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370135.1:c.1056_1059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370136.1:c.3399_3402del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370137.1:c.3399_3402del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370138.1:c.2850_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370139.1:c.2523_2526del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370140.1:c.2523_2526del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370141.1:c.2523_2526del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370142.1:c.2523_2526del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370143.1:c.2334_2337del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370144.1:c.2334_2337del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012330.4:c.3399_3402del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Telecanthus
Identifiers:
MONDO: MONDO:0008537; MedGen: C0423113; OMIM: 187350; Human Phenotype Ontology: HP:0000506
Name:
Blepharophimosis
Synonyms:
Blepharophimosis (disease)
Identifiers:
MONDO: MONDO:0001008; MedGen: C0005744; Human Phenotype Ontology: HP:0000581
Name:
Renal hypoplasia
Synonyms:
Renal hypoplasia (disease)
Identifiers:
MONDO: MONDO:0019637; MedGen: C0266295; Human Phenotype Ontology: HP:0000089
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Bulbous nose
Identifiers:
MedGen: C0240543; Human Phenotype Ontology: HP:0000414
Name:
Vesicoureteral reflux (VUR)
Synonyms:
Vesicoureteric reflux; Vesico-Ureteral Reflux
Identifiers:
MONDO: MONDO:0006007; MedGen: C0042580; Human Phenotype Ontology: HP:0000076
Name:
Hypoplasia of the maxilla
Identifiers:
MedGen: C0240310; Human Phenotype Ontology: HP:0000327
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Poor speech
Identifiers:
MedGen: C1848207; Human Phenotype Ontology: HP:0002465

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747612Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747612.1

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

Last Updated: Jan 26, 2024