NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn) AND not specified

Clinical significance:Benign (Last evaluated: Jan 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000417654.4

Allele description [Variation Report for NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)]

NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)

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.11624G>A (p.Ser3875Asn)
HGVS:
  • NC_000004.12:g.125452634G>A
  • NG_033865.1:g.141223G>A
  • NM_001291285.3:c.11624G>A
  • NM_001291303.3:c.11624G>AMANE SELECT
  • NM_024582.4:c.11618G>A
  • NM_024582.6:c.11618G>A
  • NP_001278214.1:p.Ser3875Asn
  • NP_001278232.1:p.Ser3875Asn
  • NP_078858.4:p.Ser3873Asn
  • NP_078858.4:p.Ser3873Asn
  • NC_000004.11:g.126373789G>A
  • NC_000004.11:g.126373789G>A
Protein change:
S3873N
Links:
dbSNP: rs12650153
NCBI 1000 Genomes Browser:
rs12650153
Molecular consequence:
  • NM_001291285.3:c.11624G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.3:c.11624G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.11618G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.6:c.11618G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000519334GeneDxcriteria provided, single submitter
Benign
(Jan 8, 2016)
germlineclinical testing

Citation Link,

SCV001919405Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001958959Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001966005Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000519334.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001919405.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001958959.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966005.1

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

Last Updated: Oct 25, 2021

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