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NM_000377.3(WAS):c.134C>T (p.Thr45Met) AND WAS-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2024
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:
RCV004748516.1

Allele description [Variation Report for NM_000377.3(WAS):c.134C>T (p.Thr45Met)]

NM_000377.3(WAS):c.134C>T (p.Thr45Met)

Gene:
WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
HGVS:
  • NC_000023.11:g.48684284C>T
  • NG_007877.1:g.5488C>T
  • NM_000377.3:c.134C>TMANE SELECT
  • NP_000368.1:p.Thr45Met
  • NP_000368.1:p.Thr45Met
  • LRG_125t1:c.134C>T
  • LRG_125:g.5488C>T
  • LRG_125p1:p.Thr45Met
  • NC_000023.10:g.48542673C>T
  • NM_000377.2:c.134C>T
  • P42768:p.Thr45Met
Protein change:
T45M; THR45MET
Links:
UniProtKB: P42768#VAR_008106; OMIM: 300392.0010; dbSNP: rs132630273
NCBI 1000 Genomes Browser:
rs132630273
Molecular consequence:
  • NM_000377.3:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
WAS-related disorder
Synonyms:
WAS-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005361119PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 25, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005361119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The WAS c.134C>T variant is predicted to result in the amino acid substitution p.Thr45Met. This variant has been reported as causative for Wiskott-Aldrich syndrome (see for examples Kwan et al. 1995. PubMed ID: 7753869; Jin et al. 2004. PubMed ID: 15284122; Gulácsy et al. 2011. PubMed ID: 21185603). Functional studies indicate this variant decreases protein function (Worth et al. 2013. PubMed ID: 23160469). This variant has not been reported in a large population database, indicating this variant is rare. This variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/11123). Given the evidence, we interpret c.134C>T (p.Thr45Met) as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024