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NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) AND Wiskott-Aldrich syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001171382.3

Allele description [Variation Report for NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)]

NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)

Gene:
WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)
HGVS:
  • NC_000023.11:g.48689376_48689380dup
  • NG_007877.1:g.10580_10584dup
  • NM_000377.3:c.1395_1399dupMANE SELECT
  • NP_000368.1:p.Val467fs
  • LRG_125:g.10580_10584dup
  • NC_000023.10:g.48547765_48547769dup
  • NM_000377.3:c.1399_1400insACTGGMANE SELECT
Protein change:
V467fs
Links:
dbSNP: rs2062432605
NCBI 1000 Genomes Browser:
rs2062432605
Molecular consequence:
  • NM_000377.3:c.1395_1399dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Wiskott-Aldrich syndrome (WAS)
Synonyms:
Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2; IMD 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010518; MedGen: C0043194; Orphanet: 906; OMIM: 301000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001197984Neil Romberg Laboratory, Children's Hospital of Philadelphia
no assertion criteria provided
Pathogenic
(Dec 1, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Neil Romberg Laboratory, Children's Hospital of Philadelphia, SCV001197984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022