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NM_024582.4(FAT4):c.10055C>A (p.Thr3352Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jul 31, 2017
Accession:
VCV000449771.2
Variation ID:
449771
Description:
single nucleotide variant
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NM_024582.4(FAT4):c.10055C>A (p.Thr3352Asn)

Allele ID
443579
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125451071 (GRCh38) GRCh38 UCSC
4: 126372226 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.126372226C>A
NC_000004.12:g.125451071C>A
NM_001291285.1:c.10061C>A NP_001278214.1:p.Thr3354Asn missense
... more HGVS
Protein change
T3352N, T3354N
Other names
-
Canonical SPDI
NC_000004.12:125451070:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA3073630
dbSNP: rs145285004
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 criteria provided, single submitter Jul 31, 2017 RCV000521688.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FAT4 - - GRCh38
GRCh37
450 474

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618161.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The T3352N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T3352N … (more)

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 rs145285004...

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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 Feb 27, 2021