NM_015338.6(ASXL1):c.4101del (p.Lys1368fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2022
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:: RCV003223833.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.4101del (p.Lys1368fs)]

NM_015338.6(ASXL1):c.4101del (p.Lys1368fs)

Gene:

ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_015338.6(ASXL1):c.4101del (p.Lys1368fs)

HGVS:

NC_000020.11:g.32436813del
NG_027868.1:g.83470del
NM_001363734.1:c.3918del
NM_015338.6:c.4101delMANE SELECT
NP_001350663.1:p.Lys1307fs
NP_056153.2:p.Lys1368Argfs
NP_056153.2:p.Lys1368fs
LRG_630t1:c.4101del
LRG_630:g.83470del
NC_000020.10:g.31024616del
NM_015338.5:c.4101del
NM_015338.5:c.4101delC

Protein change:

K1307fs

Molecular consequence:

NM_001363734.1:c.3918del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015338.6:c.4101del - 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
SCV003919258	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919258

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 20, 2022)

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, SCV003919258.1

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

Description

Frameshift variant predicted to result in protein truncation, as the last 174 amino acids are replaced with 81 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Has not been previously published as pathogenic or benign to our knowledge

#	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: Apr 30, 2023

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