NM_024426.6(WT1):c.510C>T (p.Ser170=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Nov 10, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001487497.1

Allele description [Variation Report for NM_024426.6(WT1):c.510C>T (p.Ser170=)]

NM_024426.6(WT1):c.510C>T (p.Ser170=)

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.510C>T (p.Ser170=)
HGVS:
  • NC_000011.10:g.32434851G>A
  • NG_009272.1:g.5691C>T
  • NG_050766.1:g.4104G>A
  • NM_000378.6:c.510C>T
  • NM_024424.5:c.510C>T
  • NM_024426.6:c.510C>TMANE SELECT
  • NP_000369.4:p.Ser170=
  • NP_077742.3:p.Ser170=
  • NP_077744.4:p.Ser170=
  • LRG_525:g.5691C>T
  • NC_000011.9:g.32456397G>A
  • NR_160306.1:n.689C>T
Molecular consequence:
  • NR_160306.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000378.6:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024424.5:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024426.6:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Drash syndrome (DDS)
Synonyms:
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM; Wilms tumor and pseudohermaphroditism; Nephropathy, wilms tumor, and genital anomalies; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008682; MedGen: C0950121; Orphanet: 220; OMIM: 194080
Name:
Frasier syndrome
Identifiers:
MONDO: MONDO:0007635; MedGen: C0950122; Orphanet: 347; OMIM: 136680
Name:
Wilms tumor 1 (WT1)
Synonyms:
Bilateral Wilms tumor; Familial Wilms tumor 2; Wilms tumor, somatic
Identifiers:
MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070
Name:
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001691986Invitaecriteria provided, single submitter
Likely benign
(Nov 10, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001691986.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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