NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln) AND Autism spectrum disorder

Germline classification:: Uncertain significance (1 submission)
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:: RCV001261691.3

Allele description [Variation Report for NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln)]

NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln)

Genes:

TANC2:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Gene - OMIM - HGNC]
LOC105371856:uncharacterized LOC105371856 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln)

HGVS:

NC_000017.11:g.63395795G>A
NM_001394998.1:c.3104G>AMANE SELECT
NM_025185.4:c.2882G>A
NP_001381927.1:p.Arg1035Gln
NP_079461.2:p.Arg961Gln
NC_000017.10:g.61473156G>A
NM_025185.3:c.2882G>A

Protein change:

R1035Q

Links:

dbSNP: rs374131489

NCBI 1000 Genomes Browser:

rs374131489

Molecular consequence:

NM_001394998.1:c.3104G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_025185.4:c.2882G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439000	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Uncertain significance	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439000

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Uncertain significance

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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