NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 3, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000998295.4

Allele description [Variation Report for NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)]

NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)

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.13193T>C (p.Ile4398Thr)
HGVS:
  • NC_000004.12:g.125490009T>C
  • NG_033865.1:g.178598T>C
  • NM_001291285.2:c.13190T>C
  • NM_001291303.3:c.13193T>CMANE SELECT
  • NM_024582.5:c.13187T>C
  • NP_001278214.1:p.Ile4397Thr
  • NP_001278232.1:p.Ile4398Thr
  • NP_078858.4:p.Ile4396Thr
  • NC_000004.11:g.126411164T>C
  • NM_024582.4:c.13187T>C
Protein change:
I4396T
Links:
dbSNP: rs200729108
NCBI 1000 Genomes Browser:
rs200729108
Molecular consequence:
  • NM_001291285.2:c.13190T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.3:c.13193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.5:c.13187T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001154283CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2019)
germlineclinical testing

Citation Link,

SCV001805336GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 3, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154283.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001805336.1

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

Description

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 pathogenic or benign to our knowledge

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

Last Updated: Oct 6, 2021

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