NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 16, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000722586.1

Allele description [Variation Report for NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu)]

NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu)

Genes:
WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
Variant type:
Indel
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu)
HGVS:
  • NC_000011.10:g.32434750_32434752delinsTCA
  • NG_009272.1:g.5790_5792delinsTGA
  • NG_050766.1:g.4003_4005delinsTCA
  • NM_000378.6:c.609_611delinsTGA
  • NM_024424.5:c.609_611delinsTGA
  • NM_024426.6:c.609_611delinsTGAMANE SELECT
  • NP_000369.4:p.Ala204Glu
  • NP_077742.3:p.Ala204Glu
  • NP_077744.4:p.Ala204Glu
  • LRG_525:g.5790_5792delinsTGA
  • NC_000011.9:g.32456296_32456298delinsTCA
  • NR_160306.1:n.788_790delinsTGA
Protein change:
A204E
Links:
dbSNP: rs1565001078
NCBI 1000 Genomes Browser:
rs1565001078
Molecular consequence:
  • NM_000378.6:c.609_611delinsTGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024424.5:c.609_611delinsTGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024426.6:c.609_611delinsTGA - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160306.1:n.788_790delinsTGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000853717Gharavi Laboratory,Columbia Universityno assertion criteria provided
Uncertain significance
(Sep 16, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Gharavi Laboratory,Columbia University, SCV000853717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 12, 2021

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