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NM_024582.4(FAT4):c.12641G>A (p.Arg4214His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 7, 2019
Accession:
VCV000432221.6
Variation ID:
432221
Description:
single nucleotide variant
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NM_024582.4(FAT4):c.12641G>A (p.Arg4214His)

Allele ID
425597
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125481563 (GRCh38) GRCh38 UCSC
4: 126402718 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.126402718G>A
NC_000004.12:g.125481563G>A
NG_033865.1:g.170152G>A
... more HGVS
Protein change
R4214H, R4216H
Other names
-
Canonical SPDI
NC_000004.12:125481562:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00054
Exome Aggregation Consortium (ExAC) 0.00026
The Genome Aggregation Database (gnomAD) 0.00038
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
The Genome Aggregation Database (gnomAD), exomes 0.00043
Links
ClinGen: CA3074164
dbSNP: rs148170326
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 May 30, 2018 RCV001333189.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 7, 2019 RCV000498993.5
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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
Uncertain significance
(Mar 29, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589920.4
Submitted: (Sep 23, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as … (more)
Likely benign
(Dec 07, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001200668.2
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(May 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hennekam lymphangiectasia-lymphedema syndrome 2
Allele origin: maternal
Baylor Genetics
Accession: SCV001525704.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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 rs148170326...

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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 Oct 08, 2021