NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) AND Hennekam lymphangiectasia-lymphedema syndrome 2

Clinical significance:Uncertain significance (Last evaluated: May 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001333189.1

Allele description [Variation Report for NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)]

NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)

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.12647G>A (p.Arg4216His)
HGVS:
  • NC_000004.12:g.125481563G>A
  • NG_033865.1:g.170152G>A
  • NM_001291285.3:c.12647G>A
  • NM_001291303.3:c.12647G>AMANE SELECT
  • NM_024582.4:c.12641G>A
  • NM_024582.6:c.12641G>A
  • NP_001278214.1:p.Arg4216His
  • NP_001278232.1:p.Arg4216His
  • NP_078858.4:p.Arg4214His
  • NP_078858.4:p.Arg4214His
  • NC_000004.11:g.126402718G>A
  • NC_000004.11:g.126402718G>A
Protein change:
R4214H
Links:
dbSNP: rs148170326
NCBI 1000 Genomes Browser:
rs148170326
Molecular consequence:
  • NM_001291285.3:c.12647G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.3:c.12647G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.12641G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.6:c.12641G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2)
Identifiers:
MONDO: MONDO:0014454; MedGen: C4014939; Orphanet: 2136; OMIM: 616006

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001525704Baylor Geneticscriteria provided, single submitter
Uncertain significance
(May 30, 2018)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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 Baylor Genetics, SCV001525704.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 25, 2021

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