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NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) AND Bohring-Opitz syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 13, 2018
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:
RCV000779754.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter)]

NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter)

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.4060G>T (p.Glu1354Ter)
HGVS:
  • NC_000020.11:g.32436772G>T
  • NG_027868.1:g.83429G>T
  • NM_001363734.1:c.3877G>T
  • NM_015338.6:c.4060G>TMANE SELECT
  • NP_001350663.1:p.Glu1293Ter
  • NP_056153.2:p.Glu1354Ter
  • NP_056153.2:p.Glu1354Ter
  • LRG_630t1:c.4060G>T
  • LRG_630:g.83429G>T
  • LRG_630p1:p.Glu1354Ter
  • NC_000020.10:g.31024575G>T
  • NM_015338.5:c.4060G>T
Protein change:
E1293*
Links:
dbSNP: rs1569339085
NCBI 1000 Genomes Browser:
rs1569339085
Molecular consequence:
  • NM_001363734.1:c.3877G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015338.6:c.4060G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Bohring-Opitz syndrome
Synonyms:
C-like syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011510; MedGen: C0796232; Orphanet: 97297; OMIM: 605039

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916529Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Jun 13, 2018) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Clinical application of whole-exome sequencing across clinical indications.

Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S.

Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.

PubMed [citation]
PMID:
26633542

Clinical whole exome sequencing in child neurology practice.

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A.

Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.

PubMed [citation]
PMID:
25131622

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: ASXL1 c.4060G>T (p.Glu1354X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246256 control chromosomes. c.4060G>T has been reported in the literature in individuals affected with Bohring-Opitz syndrome as a de novo occurrence. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Jul 29, 2023