NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) AND Autism spectrum disorder

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000754681.1

Allele description [Variation Report for NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)]

NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)

Gene:
SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)
HGVS:
  • NC_000022.11:g.50465238C>A
  • NG_041810.1:g.14834G>T
  • NM_001365819.1:c.1183G>T
  • NM_002972.4:c.1180G>TMANE SELECT
  • NP_001352748.1:p.Glu395Ter
  • NP_002963.2:p.Glu394Ter
  • NC_000022.10:g.50903667C>A
  • NM_002972.3:c.1180G>T
Protein change:
E394*
Links:
dbSNP: rs1569513495
NCBI 1000 Genomes Browser:
rs1569513495
Molecular consequence:
  • NM_001365819.1:c.1183G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002972.4:c.1180G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders; Autism susceptibility
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586; OMIM: PS209850

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804773Liping Wei Laboratory,Peking Universitycriteria provided, single submitter
Likely pathogenic
(Aug 1, 2018)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesede novoyes1not providednot provided1not providedresearch

Citations

PubMed

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L.

Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.

PubMed [citation]
PMID:
30763456
PMCID:
PMC6593842

Details of each submission

From Liping Wei Laboratory,Peking University, SCV000804773.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 2, 2021

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