NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 21, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003151341.2

Allele description [Variation Report for NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala)]

NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala)

HGVS:

NC_000018.10:g.33743777A>C
NG_055244.1:g.170201A>C
NM_030632.2:c.3929A>C
NM_030632.3:c.3929A>CMANE SELECT
NP_085135.1:p.Glu1310Ala
NC_000018.9:g.31323741A>C
NM_030632.1:c.3929A>C

Protein change:

E1310A

Links:

dbSNP: rs75740578

NCBI 1000 Genomes Browser:

rs75740578

Molecular consequence:

NM_030632.3:c.3929A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003839959	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Benign (Sep 21, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003839959

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Benign
(Sep 21, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839959.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine