NM_030632.3(ASXL3):c.4153_4154del (p.Val1385fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 31, 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:: RCV001008081.1

Allele description [Variation Report for NM_030632.3(ASXL3):c.4153_4154del (p.Val1385fs)]

NM_030632.3(ASXL3):c.4153_4154del (p.Val1385fs)

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.4153_4154del (p.Val1385fs)

HGVS:

NC_000018.10:g.33744001_33744002del
NG_055244.1:g.170425_170426del
NM_030632.3:c.4153_4154delMANE SELECT
NP_085135.1:p.Val1385fs
NC_000018.9:g.31323965_31323966del
NM_030632.1:c.4153_4154delGT

Protein change:

V1385fs

Links:

dbSNP: rs1599572974

NCBI 1000 Genomes Browser:

rs1599572974

Molecular consequence:

NM_030632.3:c.4153_4154del - 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
SCV001167820	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 31, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167820

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 31, 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, SCV001167820.1

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

Description

The c.4153_4154delGT variant in the ASXL3 gene has been reported previously in the literature (described as c.4152_4153delTG using alternate nomenclature) in an individual with Bainbridge-Ropers syndrome (Zhu et al., 2015). The c.4153_4154delGT variant causes a frameshift starting with codon Valine 385, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Val1385IlefsX14. This variant is predicted to cause loss of normal protein function through protein truncation as the last 864 amino acids are replaced with 13 incorrect residues. The c.4153_4154delGT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4153_4154delGT 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: May 6, 2023

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