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NM_001291303.3(FAT4):c.11814A>C (p.Glu3938Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV001000997.1
Variation ID:
1000997
Description:
single nucleotide variant
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NM_001291303.3(FAT4):c.11814A>C (p.Glu3938Asp)

Allele ID
989909
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125463576 (GRCh38) GRCh38 UCSC
4: 126384731 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.126384731A>C
NC_000004.12:g.125463576A>C
NM_001291303.3:c.11814A>C MANE Select NP_001278232.1:p.Glu3938Asp missense
... more HGVS
Protein change
E3936D, E3938D
Other names
-
Canonical SPDI
NC_000004.12:125463575:A:C
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 19, 2020 RCV001297211.1
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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 19, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001486197.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with aspartic acid at codon 3936 of the FAT4 protein (p.Glu3936Asp). The glutamic acid residue is moderately conserved and … (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