NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 2, 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:: RCV000598785.1

Allele description [Variation Report for NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)]

NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)

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.4509_4513dup (p.Val1505fs)

HGVS:

NC_000018.10:g.33744357_33744361dup
NG_055244.1:g.170781_170785dup
NM_030632.3:c.4509_4513dupMANE SELECT
NP_085135.1:p.Val1505fs
NC_000018.9:g.31324321_31324325dup
NM_030632.1:c.4509_4513dupACCAG

Protein change:

V1505fs

Links:

dbSNP: rs1555744396

NCBI 1000 Genomes Browser:

rs1555744396

Molecular consequence:

NM_030632.3:c.4509_4513dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710511	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 2, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710511

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 2, 2018)

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, SCV000710511.2

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

Description

The c.4509_4513dupACCAG pathogenic variant in the ASXL3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.4509_4513dupACCAG variant causes a frameshift starting with codon Valine 1505, changes this amino acid to a Aspartic acid residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Val1505AspfsX3. This variant is predicted to cause loss of normal protein function through protein truncation. The c.4509_4513dupACCAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4509_4513dupACCAG as a pathogenic variant.

#	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: Jan 7, 2023

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