NM_000377.2(WAS):c.37C>T (p.Arg13Ter) AND Wiskott-Aldrich syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030595.1

Allele description [Variation Report for NM_000377.2(WAS):c.37C>T (p.Arg13Ter)]

NM_000377.2(WAS):c.37C>T (p.Arg13Ter)

Gene:
WAS:Wiskott-Aldrich syndrome [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_000377.2(WAS):c.37C>T (p.Arg13Ter)
HGVS:
  • NC_000023.11:g.48683890C>T
  • NG_007877.1:g.5094C>T
  • NM_000377.2:c.37C>T
  • NP_000368.1:p.Arg13Ter
  • LRG_125t1:c.37C>T
  • LRG_125:g.5094C>T
  • LRG_125p1:p.Arg13Ter
  • NC_000023.10:g.48542279C>T
  • p.Arg13X
Protein change:
R13*
Links:
dbSNP: 193922415
NCBI 1000 Genomes Browser:
rs193922415
Molecular consequence:
  • NM_000377.2:c.37C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Wiskott-Aldrich syndrome (WAS)
Synonyms:
WISKOTT-ALDRICH SYNDROME 1; Wiskott-aldrich syndrome, somatic
Identifiers:
MedGen: C0043194; Orphanet: 906; OMIM: 277970; OMIM: 301000
Age of onset:
Infancy
Prevalence:
1-9 / 1 000 000 906

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053273LabCorpcriteria provided, single submitter
pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot provided4not providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

Proust A, Guillet B, Picard C, de Saint Basile G, Pondarré C, Tamary H, Dreyfus M, Tchernia G, Fischer A, Delaunay J.

Blood Cells Mol Dis. 2007 Jul-Aug;39(1):102-6.

PubMed [citation]
PMID:
17400488

A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.

Park SK, Kim CS, Song DK, Kim JY, Choi IJ, Kim DK.

J Korean Med Sci. 2007 Dec;22(6):998-1001.

PubMed [citation]
PMID:
18162713
PMCID:
PMC2694638
See all PubMed Citations (4)

Details of each submission

From LabCorp, SCV000053273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (4)
2not provided1not providednot providedcuration PubMed (4)
3not provided1not providednot providedcuration PubMed (4)
4not provided1not providednot providedcuration PubMed (4)
5not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided
4germlineyes1not providednot provided1not providednot providednot provided
5germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 5

Co-occurrences

#ZygosityAllelesNumber of Observations
5Homozygote1

Last Updated: Dec 6, 2016