U.S. flag

An official website of the United States government

NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter) AND Rubinstein Taybi like syndrome

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001261775.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter)]

NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter)

Gene:
ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter)
HGVS:
  • NC_000020.11:g.32436568C>T
  • NG_027868.1:g.83225C>T
  • NM_001363734.1:c.3673C>T
  • NM_015338.6:c.3856C>TMANE SELECT
  • NP_001350663.1:p.Gln1225Ter
  • NP_056153.2:p.Gln1286Ter
  • LRG_630:g.83225C>T
  • NC_000020.10:g.31024371C>T
Protein change:
Q1225*
Links:
dbSNP: rs2011901554
NCBI 1000 Genomes Browser:
rs2011901554
Molecular consequence:
  • NM_001363734.1:c.3673C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015338.6:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Rubinstein Taybi like syndrome
Synonyms:
Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses
Identifiers:
MONDO: MONDO:0043195; MedGen: C2931052

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001439091University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicde novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, et al.

Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26.

PubMed [citation]
PMID:
30806792
PMCID:
PMC6736609

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439091.1

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

Last Updated: Apr 23, 2022