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NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 16, 2021)
Last evaluated:
Mar 1, 2021
Accession:
VCV001064577.1
Variation ID:
1064577
Description:
single nucleotide variant
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NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)

Allele ID
1052799
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q28.1
Genomic location
4: 125320149 (GRCh38) GRCh38 UCSC
4: 126241304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.126241304C>G
NC_000004.12:g.125320149C>G
NG_033865.1:g.8738C>G
... more HGVS
Protein change
H1246Q
Other names
-
Canonical SPDI
NC_000004.12:125320148:C:G
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 Mar 1, 2021 RCV001374624.1
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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
(Mar 01, 2021)
criteria provided, single submitter
Method: research
Van Maldergem syndrome 2
Allele origin: germline
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
Study: CSER_NCGENES
Accession: SCV001571470.1
Submitted: (Apr 16, 2021)
Evidence details
Comment:
The FAT4 c.3738C>G (p.His1246Gln) missense variant is located in exon 2 and results in a single amino acid substitution from a histidine to a glutamine. … (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 Oct 08, 2021