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NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs) AND Autism spectrum disorder due to AUTS2 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2024
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:
RCV004578009.1

Allele description [Variation Report for NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)]

NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)

Gene:
AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q11.22
Genomic location:
Preferred name:
NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)
HGVS:
  • NC_000007.14:g.69899368_69899369dup
  • NG_034133.1:g.305450_305451dup
  • NM_001127231.3:c.392_393dup
  • NM_001127232.3:c.392_393dup
  • NM_015570.4:c.392_393dupMANE SELECT
  • NP_001120703.1:p.Gly132fs
  • NP_001120704.1:p.Gly132fs
  • NP_056385.1:p.Gly132fs
  • NC_000007.13:g.69364354_69364355dup
Protein change:
G132fs
Molecular consequence:
  • NM_001127231.3:c.392_393dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127232.3:c.392_393dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015570.4:c.392_393dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV005062027Palindrome, Gene Kavoshgaran Aria
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 5, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical 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 Palindrome, Gene Kavoshgaran Aria, SCV005062027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2024