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NM_024582.4(FAT4):c.11664C>T (p.Cys3888=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 26, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000682187.5
Variation ID:
682187
Description:
single nucleotide variant
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NM_024582.4(FAT4):c.11664C>T (p.Cys3888=)

Allele ID
655591
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125452680 (GRCh38) GRCh38 UCSC
4: 126373835 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.126373835C>T
NC_000004.12:g.125452680C>T
NG_033865.1:g.141269C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:125452679:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00087
Exome Aggregation Consortium (ExAC) 0.00027
The Genome Aggregation Database (gnomAD) 0.00076
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00026
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00138
Links
dbSNP: rs150894545
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 30, 2020 RCV000842210.5
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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
Benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001063058.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 29, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984210.2
Submitted: (Sep 26, 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 rs150894545...

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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 Sep 26, 2021