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NM_021078.3(KAT2A):c.2386G>T (p.Asp796Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 12, 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:
RCV004112477.1

Allele description [Variation Report for NM_021078.3(KAT2A):c.2386G>T (p.Asp796Tyr)]

NM_021078.3(KAT2A):c.2386G>T (p.Asp796Tyr)

Gene:
KAT2A:lysine acetyltransferase 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_021078.3(KAT2A):c.2386G>T (p.Asp796Tyr)
HGVS:
  • NC_000017.11:g.42113777C>A
  • NM_001376227.1:c.2389G>T
  • NM_021078.3:c.2386G>TMANE SELECT
  • NP_001363156.1:p.Asp797Tyr
  • NP_066564.2:p.Asp796Tyr
  • NC_000017.10:g.40265795C>A
  • NM_021078.2:c.2386G>T
Protein change:
D796Y
Molecular consequence:
  • NM_001376227.1:c.2389G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021078.3:c.2386G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003583074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 12, 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, SCV003583074.2

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

Description

The c.2386G>T (p.D796Y) alteration is located in exon 18 (coding exon 18) of the KAT2A gene. This alteration results from a G to T substitution at nucleotide position 2386, causing the aspartic acid (D) at amino acid position 796 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024