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NM_024426.6(WT1):c.164C>T (p.Ala55Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV002747564.1

Allele description [Variation Report for NM_024426.6(WT1):c.164C>T (p.Ala55Val)]

NM_024426.6(WT1):c.164C>T (p.Ala55Val)

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.164C>T (p.Ala55Val)
HGVS:
  • NC_000011.10:g.32435197G>A
  • NG_009272.1:g.5345C>T
  • NG_050766.1:g.4450G>A
  • NG_050766.2:g.5129G>A
  • NM_000378.6:c.164C>T
  • NM_001407044.1:c.164C>T
  • NM_001407045.1:c.164C>T
  • NM_001407046.1:c.164C>T
  • NM_001407047.1:c.164C>T
  • NM_001407048.1:c.164C>T
  • NM_001407049.1:c.164C>T
  • NM_001407050.1:c.164C>T
  • NM_024424.5:c.164C>T
  • NM_024425.2:c.149C>T
  • NM_024426.6:c.164C>TMANE SELECT
  • NP_000369.4:p.Ala55Val
  • NP_001393973.1:p.Ala55Val
  • NP_001393974.1:p.Ala55Val
  • NP_001393975.1:p.Ala55Val
  • NP_001393976.1:p.Ala55Val
  • NP_001393977.1:p.Ala55Val
  • NP_001393978.1:p.Ala55Val
  • NP_001393979.1:p.Ala55Val
  • NP_077742.3:p.Ala55Val
  • NP_077743.2:p.Ala50Val
  • NP_077744.3:p.Ala50Val
  • NP_077744.4:p.Ala55Val
  • LRG_525t1:c.149C>T
  • LRG_525:g.5345C>T
  • LRG_525p1:p.Ala50Val
  • NC_000011.9:g.32456743G>A
  • NM_024426.3:c.149C>T
  • NM_024426.4:c.149C>T
  • NR_160306.1:n.343C>T
  • NR_176266.1:n.343C>T
Protein change:
A50V
Molecular consequence:
  • NM_000378.6:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407044.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407045.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407046.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407047.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407048.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407049.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407050.1:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024424.5:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024425.2:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024426.6:c.164C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160306.1:n.343C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003566271Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Aug 9, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003566271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.149C>T (p.A50V) alteration is located in exon 1 (coding exon 1) of the WT1 gene. This alteration results from a C to T substitution at nucleotide position 149, causing the alanine (A) at amino acid position 50 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023