NM_024582.4(FAT4):c.6719C>T (p.Thr2240Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_024582.4(FAT4):c.6719C>T (p.Thr2240Ile)]

NM_024582.4(FAT4):c.6719C>T (p.Thr2240Ile)

FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_024582.4(FAT4):c.6719C>T (p.Thr2240Ile)
  • NC_000004.12:g.125415682C>T
  • NG_033865.1:g.104271C>T
  • NM_001291285.1:c.6719C>T
  • NM_001291303.1:c.6719C>T
  • NM_024582.4:c.6719C>T
  • NP_001278214.1:p.Thr2240Ile
  • NP_001278232.1:p.Thr2240Ile
  • NP_078858.4:p.Thr2240Ile
  • NC_000004.11:g.126336837C>T
Protein change:
dbSNP: rs774192877
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001291285.1:c.6719C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.1:c.6719C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.6719C>T - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000577456GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 29, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000577456.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


A variant of uncertain significance has been identified in the FAT4 gene. The T2240I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T2240I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T2240I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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