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NM_012330.4(KAT6B):c.4051G>A (p.Glu1351Lys) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 25, 2021
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:
RCV002708066.2

Allele description [Variation Report for NM_012330.4(KAT6B):c.4051G>A (p.Glu1351Lys)]

NM_012330.4(KAT6B):c.4051G>A (p.Glu1351Lys)

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.4051G>A (p.Glu1351Lys)
HGVS:
  • NC_000010.11:g.75028875G>A
  • NG_032048.1:g.207463G>A
  • NM_001256468.2:c.3502G>A
  • NM_001256469.2:c.3175G>A
  • NM_001370132.1:c.3013G>A
  • NM_001370133.1:c.2362G>A
  • NM_001370134.1:c.1966G>A
  • NM_001370135.1:c.1708G>A
  • NM_001370136.1:c.4051G>A
  • NM_001370137.1:c.4051G>A
  • NM_001370138.1:c.3502G>A
  • NM_001370139.1:c.3175G>A
  • NM_001370140.1:c.3175G>A
  • NM_001370141.1:c.3175G>A
  • NM_001370142.1:c.3175G>A
  • NM_001370143.1:c.2986G>A
  • NM_001370144.1:c.2986G>A
  • NM_012330.4:c.4051G>AMANE SELECT
  • NP_001243397.1:p.Glu1168Lys
  • NP_001243398.1:p.Glu1059Lys
  • NP_001357061.1:p.Glu1005Lys
  • NP_001357062.1:p.Glu788Lys
  • NP_001357063.1:p.Glu656Lys
  • NP_001357064.1:p.Glu570Lys
  • NP_001357065.1:p.Glu1351Lys
  • NP_001357066.1:p.Glu1351Lys
  • NP_001357067.1:p.Glu1168Lys
  • NP_001357068.1:p.Glu1059Lys
  • NP_001357069.1:p.Glu1059Lys
  • NP_001357070.1:p.Glu1059Lys
  • NP_001357071.1:p.Glu1059Lys
  • NP_001357072.1:p.Glu996Lys
  • NP_001357073.1:p.Glu996Lys
  • NP_036462.2:p.Glu1351Lys
  • NC_000010.10:g.76788633G>A
  • NM_012330.2:c.4051G>A
Protein change:
E1005K
Molecular consequence:
  • NM_001256468.2:c.3502G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256469.2:c.3175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370132.1:c.3013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370133.1:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370134.1:c.1966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370135.1:c.1708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370136.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370137.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370138.1:c.3502G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370139.1:c.3175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370140.1:c.3175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370141.1:c.3175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370142.1:c.3175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370143.1:c.2986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370144.1:c.2986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012330.4:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003556352Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 25, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003556352.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024