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NM_024582.4(FAT4):c.6991G>A (p.Val2331Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Oct 17, 2017
Accession:
VCV000452745.2
Variation ID:
452745
Description:
single nucleotide variant
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NM_024582.4(FAT4):c.6991G>A (p.Val2331Ile)

Allele ID
443575
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125416595 (GRCh38) GRCh38 UCSC
4: 126337750 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.126337750G>A
NC_000004.12:g.125416595G>A
NM_001291285.1:c.6991G>A NP_001278214.1:p.Val2331Ile missense
... more HGVS
Protein change
V2331I
Other names
-
Canonical SPDI
NC_000004.12:125416594:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA3073046
dbSNP: rs752320782
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 Oct 17, 2017 RCV000521678.1
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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
(Oct 17, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000621576.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The V2331I variant in the FAT4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (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 rs752320782...

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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