NM_024582.4(FAT4):c.14129C>G (p.Ser4710Cys) AND not provided

Clinical significance:Benign (Last evaluated: Dec 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001517628.2

Allele description [Variation Report for NM_024582.4(FAT4):c.14129C>G (p.Ser4710Cys)]

NM_024582.4(FAT4):c.14129C>G (p.Ser4710Cys)

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.14129C>G (p.Ser4710Cys)
HGVS:
  • NC_000004.12:g.125490951C>G
  • NG_033865.1:g.179540C>G
  • NM_001291285.1:c.14132C>G
  • NM_001291303.1:c.14135C>G
  • NM_024582.4:c.14129C>G
  • NP_001278214.1:p.Ser4711Cys
  • NP_001278232.1:p.Ser4712Cys
  • NP_078858.4:p.Ser4710Cys
  • NC_000004.11:g.126412106C>G
Protein change:
S4710C
Links:
dbSNP: rs147662558
NCBI 1000 Genomes Browser:
rs147662558
Molecular consequence:
  • NM_001291285.1:c.14132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.1:c.14135C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.14129C>G - 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
SCV001726165Invitaecriteria provided, single submitter
Benign
(Dec 2, 2020)
germlineclinical testing

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

SCV001799847Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 Invitae, SCV001726165.1

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799847.1

#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 6, 2021

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