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NM_001291303.3(FAT4):c.3505C>T (p.Arg1169Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV001001803.1
Variation ID:
1001803
Description:
single nucleotide variant
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NM_001291303.3(FAT4):c.3505C>T (p.Arg1169Trp)

Allele ID
989901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125319916 (GRCh38) GRCh38 UCSC
4: 126241071 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.12:g.125319916C>T
NC_000004.11:g.126241071C>T
NM_001291303.3:c.3505C>T MANE Select NP_001278232.1:p.Arg1169Trp missense
... more HGVS
Protein change
R1169W
Other names
-
Canonical SPDI
NC_000004.12:125319915:C:T
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 criteria provided, single submitter Oct 7, 2020 RCV001298147.1
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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 07, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001487191.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with tryptophan at codon 1169 of the FAT4 protein (p.Arg1169Trp). The arginine residue is weakly conserved and there is a … (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.

Record last updated Mar 12, 2021