NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu) AND Autism spectrum disorder due to AUTS2 deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 2020
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:: RCV003143694.3

Allele description

NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)

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.1527C>A (p.Asp509Glu)

HGVS:

NC_000007.14:g.70766172C>A
NG_034133.1:g.1172254C>A
NM_001127231.3:c.1527C>A
NM_015570.4:c.1527C>AMANE SELECT
NP_001120703.1:p.Asp509Glu
NP_056385.1:p.Asp509Glu
NC_000007.13:g.70231158C>A
NM_015570.2:c.1527C>A

Protein change:

D509E

Molecular consequence:

NM_001127231.3:c.1527C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015570.4:c.1527C>A - missense variant - [Sequence Ontology: SO:0001583]

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

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unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|310906363|emb|CBX51283.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003834534	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 30, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003834534

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 30, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003834534.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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