NM_001291303.3(FAT4):c.8588T>C (p.Phe2863Ser) AND multiple conditions

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000735354.1

Allele description [Variation Report for NM_001291303.3(FAT4):c.8588T>C (p.Phe2863Ser)]

NM_001291303.3(FAT4):c.8588T>C (p.Phe2863Ser)

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.8588T>C (p.Phe2863Ser)
HGVS:
  • NC_000004.12:g.125449598T>C
  • NG_033865.1:g.138187T>C
  • NM_001291285.3:c.8588T>C
  • NM_001291303.1:c.8588T>C
  • NM_001291303.3:c.8588T>CMANE SELECT
  • NM_024582.6:c.8582T>C
  • NP_001278214.1:p.Phe2863Ser
  • NP_001278232.1:p.Phe2863Ser
  • NP_001278232.1:p.Phe2863Ser
  • NP_078858.4:p.Phe2861Ser
  • NC_000004.11:g.126370753T>C
Protein change:
F2861S
Links:
dbSNP: rs1560614899
NCBI 1000 Genomes Browser:
rs1560614899
Molecular consequence:
  • NM_001291285.3:c.8588T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.1:c.8588T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.3:c.8588T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.6:c.8582T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ascites
Synonyms:
Accumulation of fluid in the abdomen
Identifiers:
MedGen: C0003962; Human Phenotype Ontology: HP:0001541
Name:
Pleural effusion
Identifiers:
MedGen: C0032227; Human Phenotype Ontology: HP:0002202
Name:
Wide intermamillary distance
Synonyms:
Wide-spaced nipples; Widely-spaced nipples
Identifiers:
MedGen: C1827524; Human Phenotype Ontology: HP:0006610
Name:
Right ventricular hypertrophy
Synonyms:
Heart right ventricle hypertrophy
Identifiers:
MedGen: C0162770; Human Phenotype Ontology: HP:0001667
Name:
Low-set nipples
Identifiers:
MedGen: C1836933; Human Phenotype Ontology: HP:0002562
Name:
Chylothorax
Identifiers:
MedGen: C0008733; Human Phenotype Ontology: HP:0010310
Name:
Hydrops fetalis
Identifiers:
MONDO: MONDO:0015193; MedGen: C0020305; Human Phenotype Ontology: HP:0001789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000854508CHLA Center for Personalized Medicine,Children's Hospital, Los Angelescriteria provided, single submitter
Uncertain significancegermlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles, SCV000854508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)
PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)
not providednot providednot providednot provided

Last Updated: Oct 25, 2021

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