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NM_012330.4(KAT6B):c.708_709del (p.Ala238fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 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:
RCV000479882.1

Allele description [Variation Report for NM_012330.4(KAT6B):c.708_709del (p.Ala238fs)]

NM_012330.4(KAT6B):c.708_709del (p.Ala238fs)

Gene:
KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_012330.4(KAT6B):c.708_709del (p.Ala238fs)
HGVS:
  • NC_000010.11:g.74960056_74960057del
  • NG_032048.1:g.138644_138645del
  • NM_001256468.2:c.708_709del
  • NM_001256469.2:c.708_709del
  • NM_001370132.1:c.708_709del
  • NM_001370133.1:c.708_709del
  • NM_001370134.1:c.170_171del
  • NM_001370135.1:c.170_171del
  • NM_001370136.1:c.708_709del
  • NM_001370137.1:c.708_709del
  • NM_001370138.1:c.708_709del
  • NM_001370139.1:c.708_709del
  • NM_001370140.1:c.708_709del
  • NM_001370141.1:c.708_709del
  • NM_001370142.1:c.708_709del
  • NM_001370143.1:c.708_709del
  • NM_001370144.1:c.708_709del
  • NM_012330.4:c.708_709delMANE SELECT
  • NP_001243397.1:p.Ala238fs
  • NP_001243398.1:p.Ala238fs
  • NP_001357061.1:p.Ala238fs
  • NP_001357062.1:p.Ala238fs
  • NP_001357063.1:p.Leu57fs
  • NP_001357064.1:p.Leu57fs
  • NP_001357065.1:p.Ala238fs
  • NP_001357066.1:p.Ala238fs
  • NP_001357067.1:p.Ala238fs
  • NP_001357068.1:p.Ala238fs
  • NP_001357069.1:p.Ala238fs
  • NP_001357070.1:p.Ala238fs
  • NP_001357071.1:p.Ala238fs
  • NP_001357072.1:p.Ala238fs
  • NP_001357073.1:p.Ala238fs
  • NP_036462.2:p.Ala238fs
  • NC_000010.10:g.76719814_76719815del
  • NM_012330.3:c.708_709delTT
Protein change:
A238fs
Links:
dbSNP: rs1064796095
NCBI 1000 Genomes Browser:
rs1064796095
Molecular consequence:
  • NM_001256468.2:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256469.2:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370132.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370133.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370134.1:c.170_171del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370135.1:c.170_171del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370136.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370137.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370138.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370139.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370140.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370141.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370142.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370143.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370144.1:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012330.4:c.708_709del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000572520GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 5, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000572520.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.708_709delTT variant in the KAT6B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.708_709delTT variant causes a frameshift starting with codon Alanine 238, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ala238ArgfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.708_709delTT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.708_709delTT as a pathogenic variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023