NM_030632.3(ASXL3):c.1448dup (p.Thr484fs) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 12, 2018
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:: RCV000624923.1

Allele description [Variation Report for NM_030632.3(ASXL3):c.1448dup (p.Thr484fs)]

NM_030632.3(ASXL3):c.1448dup (p.Thr484fs)

Gene:

ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_030632.3(ASXL3):c.1448dup (p.Thr484fs)

HGVS:

NC_000018.10:g.33738852dup
NG_055244.1:g.165276dup
NM_030632.3:c.1448dupMANE SELECT
NP_085135.1:p.Thr484fs
NC_000018.9:g.31318816dup

Protein change:

T484fs

Links:

OMIM: 615115.0005; dbSNP: rs1555742167

NCBI 1000 Genomes Browser:

rs1555742167

Molecular consequence:

NM_030632.3:c.1448dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (BRPS)
Synonyms:: Bainbridge-Ropers syndrome
Identifiers:: MONDO: MONDO:0014205; MedGen: C4750837; Orphanet: 352577; OMIM: 615485

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000743085	OMIM	no assertion criteria provided	Pathogenic (Apr 12, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743085

OMIM

no assertion criteria provided

Pathogenic
(Apr 12, 2018)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL.

Hum Mol Genet. 2016 Feb 1;25(3):597-608. doi: 10.1093/hmg/ddv499. Epub 2015 Dec 8.

PubMed [citation]

PMID:: 26647312
PMCID:: PMC4731023

Details of each submission

From OMIM, SCV000743085.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with Bainbridge-Ropers syndrome (BRPS; 615485), Srivastava et al. (2016) identified a de novo heterozygous 1-bp duplication (c.1448dupT) in exon 11 of the ASXL3 gene, predicted to result in a frameshift and premature termination (Thr484AsnfsTer5). The mutation occurred within the 5-prime cluster region. Studies of patient fibroblasts showed that the mutation resulted in nonsense-mediated mRNA decay with only 50% expression of normal protein levels.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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