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NM_139025.4(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) AND Upshaw-Schulman syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2004
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:
RCV000006177.3

Allele description

NM_139025.4(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp)

Gene:
ADAMTS13:ADAM metallopeptidase with thrombospondin type 1 motif 13 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_139025.4(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp)
HGVS:
  • NC_000009.12:g.133449852_133449857del
  • NG_011934.2:g.40514_40519del
  • NM_139025.4:c.2931_2936del
  • NM_139026.5:c.2838_2843del
  • NM_139027.5:c.2931_2936del
  • NP_620594.1:p.Cys977_Arg979delinsTrp
  • NP_620594.1:p.Cys977_Arg979delinsTrp
  • NP_620594.1:p.Cys977_Arg979delinsTrp
  • NP_620595.1:p.Cys946_Arg948delinsTrp
  • NP_620596.2:p.Cys977_Arg979delinsTrp
  • LRG_544t1:c.2931_2936del
  • LRG_544:g.40514_40519del
  • LRG_544p1:p.Cys977_Arg979delinsTrp
  • NC_000009.11:g.136314973_136314978del
  • NG_011934.1:g.32853_32858del
  • NM_139025.3:c.2930_2935del
  • NR_024514.2:n.1766_1771del
Links:
OMIM: 604134.0024; dbSNP: rs387906346
NCBI 1000 Genomes Browser:
rs387906346
Molecular consequence:
  • NM_139025.4:c.2931_2936del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_139026.5:c.2838_2843del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_139027.5:c.2931_2936del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_024514.2:n.1766_1771del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Upshaw-Schulman syndrome (TTP)
Synonyms:
Congenital Thrombotic Thrombocytopenic Purpura; Moschkowitz Disease
Identifiers:
MedGen: C1268935; OMIM: 274150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026359OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura.

Peyvandi F, Ferrari S, Lavoretano S, Canciani MT, Mannucci PM.

Br J Haematol. 2004 Nov;127(4):433-9.

PubMed [citation]
PMID:
15521921

Details of each submission

From OMIM, SCV000026359.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 21-year-old man from Iran with congenital thrombotic thrombocytopenic purpura (TTP; 274150), Peyvandi et al. (2004) identified a homozygous 6-bp deletion in exon 23 of the ADAMTS13 gene (2930del6), resulting in a cys977-to-trp (C977W) substitution and deletion of 2 amino acids, ala978 and arg979.

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

Last Updated: Feb 11, 2020