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NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del AND Autism spectrum disorder due to AUTS2 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 7, 2013
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:
RCV000119843.3

Allele description [Variation Report for NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del]

NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del

Genes:
  • LOC129998558:ATAC-STARR-seq lymphoblastoid active region 26108 [Gene]
  • LOC129998559:ATAC-STARR-seq lymphoblastoid active region 26109 [Gene]
  • LOC110121097:VISTA enhancer hs1425 [Gene]
  • LOC110121181:VISTA enhancer hs1660 [Gene]
  • LOC110121298:VISTA enhancer hs2316 [Gene]
  • LOC110121299:VISTA enhancer hs2317 [Gene]
  • LOC110121300:VISTA enhancer hs2318 [Gene]
  • LOC110120735:VISTA enhancer hs658 [Gene]
  • LOC108004522:heart enhancer 21 [Gene]
  • AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q11.22
Genomic location:
Chr7: 69899499 - 70435751 (on Assembly GRCh38)
Preferred name:
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
HGVS:
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
Note:
Deletion resulting in loss of exons 3-4 from the transcript of gene AUTS2.
Nucleotide change:
EX3-4 DEL
Links:
dbVar: nssv7487203; dbVar: nsv1197580; OMIM: 607270.0001

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154769OMIM
no assertion criteria provided
Pathogenic
(Feb 7, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, et al.

Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.

PubMed [citation]
PMID:
23332918
PMCID:
PMC3567268

Details of each submission

From OMIM, SCV000154769.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 2-year-old girl (patient 4) with developmental delay and dysmorphic features (MRD26; 615834), Beunders et al. (2013) identified an in-frame deletion encompassing exons 3 and 4 of the AUTS2 gene, resulting in the deletion of 46 amino acids. The deletion was maternally inherited. The patient had microcephaly, proptosis, short palpebral fissures, narrow mouth, and patent foramen ovale/atrial septal defect. The patient's mother had learning difficulties, cleft lip, ptosis, and retrognathia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023