NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln) AND Autism spectrum disorder

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261691.1

Allele description [Variation Report for NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln)]

NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln)

Gene:
TANC2:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln)
HGVS:
  • NC_000017.11:g.63395795G>A
  • NM_025185.4:c.2882G>A
  • NP_079461.2:p.Arg961Gln
  • NC_000017.10:g.61473156G>A
  • NM_025185.3:c.2882G>A
Protein change:
R961Q
Molecular consequence:
  • NM_025185.4:c.2882G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001439000University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedUncertain significancede novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, et al.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

PubMed [citation]
PMID:
31616000
PMCID:
PMC6794285

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

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