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NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) AND Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000988054.8

Allele description [Variation Report for NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])]

NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])

Gene:
KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
HGVS:
  • NC_000008.10:g.41790687_41790698del
  • NC_000008.11:g.41933180_41933191del
  • NG_042093.1:g.123847_123858del
  • NM_006766.5:c.5040_5051delMANE SELECT
  • NP_006757.2:p.1677_1680QQPQ[1]
  • NC_000008.10:g.41790687_41790698del
  • NC_000008.10:g.41790687_41790698delTGCGGCTGCTGT
  • NC_000008.10:g.41790698_41790709del
  • NM_006766.3:c.5040_5051del
  • NM_006766.3:c.5040_5051del12
Links:
dbSNP: rs548231613
NCBI 1000 Genomes Browser:
rs548231613
Molecular consequence:
  • NM_006766.5:c.5040_5051del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (ARTHS)
Synonyms:
Arboleda-Tham syndrome; Mental retardation, autosomal dominant 32; KAT6A syndrome
Identifiers:
MONDO: MONDO:0014558; MedGen: C4225396; Orphanet: 457193; OMIM: 616268

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137614Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137614.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024