NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 29, 2016
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:: RCV000416511.2

Allele description [Variation Report for NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer)]

NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer)

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.1961dup (p.Ser654_Ser655insTer)

HGVS:

NC_000018.10:g.33739365dup
NG_055244.1:g.165789dup
NM_030632.3:c.1961dupMANE SELECT
NP_085135.1:p.Ser654_Ser655insTer
NC_000018.9:g.31319329dup
NM_030632.1:c.1961dup
p.(Ser655*)

Links:

dbSNP: rs1057519498

NCBI 1000 Genomes Browser:

rs1057519498

Molecular consequence:

NM_030632.3:c.1961dup - 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
SCV000494442	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 29, 2016)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494442

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 29, 2016)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000494442.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This patient with an ASXL3 variant has an intellectual disability, as well as an absence of speech, and received the diagnosis of Bainbridge-Ropers syndrome.

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

Last Updated: Jan 7, 2023

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