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NM_003331.5(TYK2):c.3200+3G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000509210.5
Variation ID:
509210
Description:
single nucleotide variant
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NM_003331.5(TYK2):c.3200+3G>A

Allele ID
507450
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 10352923 (GRCh38) GRCh38 UCSC
19: 10463599 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.10352923C>T
NC_000019.9:g.10463599C>T
NM_003331.5:c.3200+3G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:10352922:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00138
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00116
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
1000 Genomes Project 0.00140
Links
ClinGen: CA9192813
dbSNP: rs143533630
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 19, 2020 RCV000972187.4
Likely benign 1 criteria provided, single submitter Apr 28, 2017 RCV000608397.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TYK2 - - GRCh38
GRCh37
466 480

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000718906.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 35
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001284617.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 35
Allele origin: germline
Invitae
Accession: SCV001119882.3
Submitted: (Jan 07, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs143533630...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021