NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) AND Autism spectrum disorder due to AUTS2 deficiency

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Sep 5, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV003145502.7

Allele description [Variation Report for NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])]

NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7q11.22

Genomic location:

Preferred name:

NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])

HGVS:

NC_000007.14:g.70766248_70766271del
NG_034133.1:g.1172330_1172353del
NM_001127231.3:c.1603_1626del
NM_015570.2:c.1603_1626del
NM_015570.4:c.1603_1626delMANE SELECT
NP_001120703.1:p.531HQHT[1]
NP_056385.1:p.531HQHT[1]
NC_000007.13:g.70231221_70231244del
NC_000007.13:g.70231234_70231257del
NM_015570.2:c.1603_1626del
NM_015570.2:c.1603_1626del24
NM_015570.2:c.1603_1626del24
NM_015570.2:c.1603_1626delCACCAGCACACGCACCAGCACACC
NM_015570.3:c.1603_1626del
NM_015570.3:c.1603_1626del24
NM_015570.3:c.1603_1626delCACCAGCACACGCACCAGCACACC
NM_015570.4:c.1603_1626del

Links:

dbSNP: rs1789934246

NCBI 1000 Genomes Browser:

rs1789934246

Molecular consequence:

NM_001127231.3:c.1603_1626del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_015570.4:c.1603_1626del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003834547	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 16, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003918963	Duke University Health System Sequencing Clinic, Duke University Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 20, 2023)	de novo	research	PubMed (1) [See all records that cite this PMID]
SCV004183488	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 5, 2023)	unknown	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

SCV003834547

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 16, 2020)

germline

clinical testing

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

SCV003918963

Duke University Health System Sequencing Clinic, Duke University Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 20, 2023)

de novo

research

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

SCV004183488

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 5, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research
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, SCV003834547.2

#	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

From Duke University Health System Sequencing Clinic, Duke University Health System, SCV003918963.1

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

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

From Baylor Genetics, SCV004183488.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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