NM_024426.6(WT1):c.285C>T (p.Gly95=) AND 11p partial monosomy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000371797.5

Allele description [Variation Report for NM_024426.6(WT1):c.285C>T (p.Gly95=)]

NM_024426.6(WT1):c.285C>T (p.Gly95=)

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.285C>T (p.Gly95=)
HGVS:
  • NC_000011.10:g.32435076G>A
  • NG_009272.1:g.5466C>T
  • NG_050766.1:g.4329G>A
  • NM_000378.6:c.285C>T
  • NM_024424.5:c.285C>T
  • NM_024426.6:c.285C>TMANE SELECT
  • NP_000369.4:p.Gly95=
  • NP_077742.3:p.Gly95=
  • NP_077744.4:p.Gly95=
  • LRG_525:g.5466C>T
  • NC_000011.9:g.32456622G>A
  • NM_024426.4:c.270C>T
  • NR_160306.1:n.464C>T
Links:
dbSNP: rs886048230
NCBI 1000 Genomes Browser:
rs886048230
Molecular consequence:
  • NR_160306.1:n.464C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000378.6:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024424.5:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024426.6:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
11p partial monosomy syndrome (WAGR)
Synonyms:
CHROMOSOME 11p13 DELETION SYNDROME; WAGR syndrome; WAGR Complex; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008681; MedGen: C0206115; Orphanet: 893; OMIM: 194072

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000371497Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000371497.2

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

Last Updated: Aug 5, 2023