NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 16, 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:: RCV001266975.2

Allele description [Variation Report for NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs)]

NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs)

HGVS:

NC_000018.10:g.33738883_33738884insTGCT
NG_055244.1:g.165307_165308insTGCT
NM_030632.3:c.1479_1480insTGCTMANE SELECT
NP_085135.1:p.Pro494fs
NC_000018.9:g.31318847_31318848insTGCT
NM_030632.1:c.1479_1480insTGCT

Protein change:

P494fs

Links:

dbSNP: rs2067597366

NCBI 1000 Genomes Browser:

rs2067597366

Molecular consequence:

NM_030632.3:c.1479_1480insTGCT - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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Marchf7 membrane associated ring-CH-type finger 7 [Mus musculus]
Marchf7 membrane associated ring-CH-type finger 7 [Mus musculus]
Gene ID:57438

Gene
57438[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445156	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jan 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445156

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jan 16, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic/Mexican	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001445156.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic/Mexican	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	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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