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

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 28, 2020)
Accession:
VCV000982151.1
Variation ID:
982151
Description:
single nucleotide variant
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NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln)

Allele ID
970339
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.3
Genomic location
17: 63395795 (GRCh38) GRCh38 UCSC
17: 61473156 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.61473156G>A
NC_000017.11:g.63395795G>A
NM_025185.4:c.2882G>A NP_079461.2:p.Arg961Gln missense
Protein change
R961Q
Other names
-
Canonical SPDI
NC_000017.11:63395794:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV001261691.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TANC2 - - GRCh38
GRCh37
53 68

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: research
Autism spectrum disorder
Allele origin: de novo
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001439000.1
Submitted: (Feb 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Guo H Nature communications 2019 PMID: 31616000

Record last updated Oct 02, 2021