NM_030632.3(ASXL3):c.1579del (p.Gln527fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 26, 2023
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:: RCV001009174.3

Allele description [Variation Report for NM_030632.3(ASXL3):c.1579del (p.Gln527fs)]

NM_030632.3(ASXL3):c.1579del (p.Gln527fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_030632.3(ASXL3):c.1579del (p.Gln527fs)

HGVS:

NC_000018.10:g.33738983del
NG_055244.1:g.165407del
NM_030632.1:c.1579del
NM_030632.3:c.1579delMANE SELECT
NP_085135.1:p.Gln527fs
NC_000018.9:g.31318947del
NM_030632.1:c.1579delC

Protein change:

Q527fs

Links:

dbSNP: rs1599563269

NCBI 1000 Genomes Browser:

rs1599563269

Molecular consequence:

NM_030632.3:c.1579del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Exp1p [Saccharomyces cerevisiae S288C]
Exp1p [Saccharomyces cerevisiae S288C]
gi|6320082|ref|NP_010162.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168991	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168991

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 26, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001168991.2

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

Description

De novo variant with confirmed parentage in a patient with clinical features of ASXL3-related neurodevelopmental disorder with multiple anomalies in published literature (PMID: 34436830); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34436830)

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

Last Updated: Oct 14, 2023

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