NM_024582.4(FAT4):c.12641G>A (p.Arg4214His) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000498993.5

Allele description [Variation Report for NM_024582.4(FAT4):c.12641G>A (p.Arg4214His)]

NM_024582.4(FAT4):c.12641G>A (p.Arg4214His)

Gene:
FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.1
Genomic location:
Preferred name:
NM_024582.4(FAT4):c.12641G>A (p.Arg4214His)
HGVS:
  • NC_000004.12:g.125481563G>A
  • NG_033865.1:g.170152G>A
  • NM_001291285.1:c.12647G>A
  • NM_001291303.1:c.12647G>A
  • NM_024582.4:c.12641G>A
  • NP_001278214.1:p.Arg4216His
  • NP_001278232.1:p.Arg4216His
  • NP_078858.4:p.Arg4214His
  • NC_000004.11:g.126402718G>A
Protein change:
R4214H
Links:
dbSNP: rs148170326
NCBI 1000 Genomes Browser:
rs148170326
Molecular consequence:
  • NM_001291285.1:c.12647G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.1:c.12647G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.12641G>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
SCV000589920GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 29, 2019)
germlineclinical testing

Citation Link,

SCV001200668Invitaecriteria provided, single submitter
Likely benign
(Dec 7, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV000589920.4

#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

From Invitae, SCV001200668.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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