NM_030632.3(ASXL3):c.1419dup (p.Pro474fs) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 27, 2021
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:: RCV002468728.4

Allele description [Variation Report for NM_030632.3(ASXL3):c.1419dup (p.Pro474fs)]

NM_030632.3(ASXL3):c.1419dup (p.Pro474fs)

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.1419dup (p.Pro474fs)

HGVS:

NC_000018.10:g.33738823dup
NG_055244.1:g.165247dup
NM_030632.3:c.1419dupMANE SELECT
NP_085135.1:p.Pro474fs
NC_000018.9:g.31318787dup

Protein change:

P474fs

Molecular consequence:

NM_030632.3:c.1419dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV002764754	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Aug 27, 2021)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764754

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Aug 27, 2021)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764754.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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