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NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter) AND Kabuki syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 5, 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:
RCV000850404.1

Allele description [Variation Report for NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)]

NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)

Gene:
KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)
HGVS:
  • NC_000023.11:g.45110234T>A
  • NG_016260.1:g.242057T>A
  • NM_001291415.2:c.4317T>AMANE SELECT
  • NM_001291416.2:c.4182T>A
  • NM_001291417.2:c.4026T>A
  • NM_001291418.2:c.3924T>A
  • NM_001291421.2:c.3273T>A
  • NM_021140.4:c.4161T>A
  • NP_001278344.1:p.Tyr1439Ter
  • NP_001278345.1:p.Tyr1394Ter
  • NP_001278346.1:p.Tyr1342Ter
  • NP_001278347.1:p.Tyr1308Ter
  • NP_001278350.1:p.Tyr1091Ter
  • NP_066963.2:p.Tyr1387Ter
  • NP_066963.2:p.Tyr1387Ter
  • LRG_616:g.242057T>A
  • NC_000023.10:g.44969479T>A
  • NM_021140.3:c.4161T>A
  • NR_111960.2:n.4412T>A
Protein change:
Y1091*
Links:
dbSNP: rs1603068073
NCBI 1000 Genomes Browser:
rs1603068073
Molecular consequence:
  • NR_111960.2:n.4412T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001291415.2:c.4317T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001291416.2:c.4182T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001291417.2:c.4026T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001291418.2:c.3924T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001291421.2:c.3273T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021140.4:c.4161T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Kabuki syndrome 2 (KABUK2)
Identifiers:
MONDO: MONDO:0010465; MedGen: C3275495; Orphanet: 2322; OMIM: 300867

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992601HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - PGEN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 5, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - PGEN, SCV000992601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022