NM_024426.6(WT1):c.375C>T (p.Gly125=) AND not provided

Clinical significance:Likely benign (Last evaluated: May 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000229394.10

Allele description [Variation Report for NM_024426.6(WT1):c.375C>T (p.Gly125=)]

NM_024426.6(WT1):c.375C>T (p.Gly125=)

Genes:
WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_024426.6(WT1):c.375C>T (p.Gly125=)
HGVS:
  • NC_000011.10:g.32434986G>A
  • NG_009272.1:g.5556C>T
  • NG_050766.1:g.4239G>A
  • NM_000378.6:c.375C>T
  • NM_024424.5:c.375C>T
  • NM_024426.6:c.375C>TMANE SELECT
  • NP_000369.4:p.Gly125=
  • NP_077742.3:p.Gly125=
  • NP_077744.4:p.Gly125=
  • LRG_525:g.5556C>T
  • NC_000011.9:g.32456532G>A
  • NM_024426.4:c.360C>T
  • NR_160306.1:n.554C>T
Links:
dbSNP: rs776209354
NCBI 1000 Genomes Browser:
rs776209354
Molecular consequence:
  • NR_160306.1:n.554C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000378.6:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024424.5:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024426.6:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
6

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001148224CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(May 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001148224.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Oct 8, 2021

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