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NM_015570.4(AUTS2):c.1A>T (p.Met1Leu) AND Autism spectrum disorder due to AUTS2 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 8, 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:
RCV001528177.2

Allele description [Variation Report for NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)]

NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)

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.1A>T (p.Met1Leu)
HGVS:
  • NC_000007.14:g.69599654A>T
  • NG_034133.1:g.5736A>T
  • NM_001127231.3:c.1A>T
  • NM_001127232.3:c.1A>T
  • NM_015570.4:c.1A>TMANE SELECT
  • NP_001120703.1:p.Met1Leu
  • NP_001120704.1:p.Met1Leu
  • NP_056385.1:p.Met1Leu
  • NC_000007.13:g.69064640A>T
  • NM_015570.3:c.1A>T
Protein change:
M1L
Links:
dbSNP: rs2129067294
NCBI 1000 Genomes Browser:
rs2129067294
Molecular consequence:
  • NM_001127231.3:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001127232.3:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_015570.4:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001127231.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127232.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015570.4:c.1A>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001739383Institute of Human Genetics, Heidelberg University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 8, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot 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 Institute of Human Genetics, Heidelberg University, SCV001739383.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The variant leads to a loss of the start codon (PVS1), it was not found in DNA extracted from the parents' blood samples (PS2), the variant is absent from controls (gnomAD; PM2); therefore we classified it as pathogenic according to ACMG criteria.

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

Last Updated: Feb 14, 2024