NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Nov 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000623046.2

Allele description [Variation Report for NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter)]

NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter)
HGVS:
  • NC_000017.11:g.46171276G>A
  • NG_032784.1:g.59099C>T
  • NM_001193465.1:c.868C>T
  • NM_001193466.2:c.868C>T
  • NM_015443.3:c.868C>T
  • NP_001180394.1:p.Arg290Ter
  • NP_001180395.1:p.Arg290Ter
  • NP_056258.1:p.Arg290Ter
  • NC_000017.10:g.44248642G>A
  • NM_001193466.1:c.868C>T
Protein change:
R290*
Links:
dbSNP: rs149830411
NCBI 1000 Genomes Browser:
rs149830411
Molecular consequence:
  • NM_001193465.1:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001193466.2:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015443.3:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742976Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 17, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

The landscape of somatic mutations in Down syndrome-related myeloid disorders.

Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A, Sanada M, Park MJ, Terui K, Suzuki H, Kon A, Nagata Y, Sato Y, Wang R, Shiba N, Chiba K, Tanaka H, Hama A, Muramatsu H, Hasegawa D, Nakamura K, Kanegane H, et al.

Nat Genet. 2013 Nov;45(11):1293-9. doi: 10.1038/ng.2759. Epub 2013 Sep 22. Erratum in: Nat Genet. 2013 Dec;45(12):1516.

PubMed [citation]
PMID:
24056718

Details of each submission

From Ambry Genetics, SCV000742976.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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