NM_015570.4(AUTS2):c.1468+5G>A AND Autism spectrum disorder due to AUTS2 deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2021
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:: RCV001801258.2

Allele description [Variation Report for NM_015570.4(AUTS2):c.1468+5G>A]

NM_015570.4(AUTS2):c.1468+5G>A

Gene:

AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.22

Genomic location:

Preferred name:

NM_015570.4(AUTS2):c.1468+5G>A

HGVS:

NC_000007.14:g.70765010G>A
NG_034133.1:g.1171092G>A
NM_001127231.3:c.1468+5G>A
NM_015570.4:c.1468+5G>AMANE SELECT
NC_000007.13:g.70229996G>A
NM_015570.3:c.1468+5G>A

Links:

dbSNP: rs1789837781

NCBI 1000 Genomes Browser:

rs1789837781

Molecular consequence:

NM_001127231.3:c.1468+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_015570.4:c.1468+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autism spectrum disorder due to AUTS2 deficiency (MRD26)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26
Identifiers:: MONDO: MONDO:0014361; MedGen: C4014435; Orphanet: 352490; OMIM: 615834

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
SCV002047466	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Uncertain significance (Aug 13, 2021)	maternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047466

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Uncertain significance
(Aug 13, 2021)

maternal

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV002047466.1

#	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	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

ClinVar

Relating variation to medicine