NM_001291303.3(FAT4):c.6991G>A (p.Val2331Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000521678.1

Allele description [Variation Report for NM_001291303.3(FAT4):c.6991G>A (p.Val2331Ile)]

NM_001291303.3(FAT4):c.6991G>A (p.Val2331Ile)

Gene:
FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.1
Genomic location:
Preferred name:
NM_001291303.3(FAT4):c.6991G>A (p.Val2331Ile)
HGVS:
  • NC_000004.12:g.125416595G>A
  • NG_033865.1:g.105184G>A
  • NM_001291285.3:c.6991G>A
  • NM_001291303.3:c.6991G>AMANE SELECT
  • NM_024582.4:c.6991G>A
  • NM_024582.6:c.6991G>A
  • NP_001278214.1:p.Val2331Ile
  • NP_001278232.1:p.Val2331Ile
  • NP_078858.4:p.Val2331Ile
  • NP_078858.4:p.Val2331Ile
  • NC_000004.11:g.126337750G>A
Protein change:
V2331I
Links:
dbSNP: rs752320782
NCBI 1000 Genomes Browser:
rs752320782
Molecular consequence:
  • NM_001291285.3:c.6991G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.3:c.6991G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.6991G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.6:c.6991G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000621576GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 17, 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, SCV000621576.2

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

Description

The V2331I variant in the FAT4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V2331I variant is not observed in large population cohorts (Lek et al., 2016). The V2331I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V2331I as a variant of uncertain significance.

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

Last Updated: Oct 25, 2021

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