Variant detail

mut_id 165 · c.1584+5G>A

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Evidence at a glance

2
Linked patients
2
Patient-variant records
4
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point Splicing Conflicting classifications of pathogenicity
HGVS
c.1584+5G>A
rsID
rs782235228
ClinVar ID
5810
GRCh38 coordinate
133437902
Location
intron 13
gnomAD AF
0.00001426
Domain
Not available
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Novel ADAMTS13 mutation in a family with three recurrent neonatal deaths: a case report and literature review
Authors: Yang L, Li X, Zhu X, Gu N, Dai Y.
Source: Transl Pediatr (2022)
Citation: Transl Pediatr. 2022 May;11(5):766-773. doi: 10.21037/tp-22-114.
PubMed: 35685080 · DOI: 10.21037/tp-22-114
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3
Upshaw-Schulman Syndrome: Novel homozygous missense mutation
Authors: Sarmiento H, Pomares IM, Manresa PM, Castaño FL, Hernandez LM, Marco P.
Source: Thromb Res (2017)
Citation: Thromb Res. 2017 Oct;158:83-85. doi: 10.1016/j.thromres.2017.08.013. Epub 2017 Aug 23.
PubMed: 28858683 · DOI: 10.1016/j.thromres.2017.08.013

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

Countries represented
UK (1); USA (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (1); homozygous (1)
Sex
female (1); male (1)
Pregnancy-related
yes (1); no (1)
Triggers
pregnancy (1); infection (1)
Treatment
unknown (2)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=17; range=17–17
Age of diagnosis
n=1; median=17; range=17–17
Platelet count
n=1; median=20; range=20–20

Variant fields

mut_syn_HGVS
c.1584+5G>A
cdna_numb_HGVS
1584
cdna_numb_legacy
1584
nt_change
G>A
n_bp
1
nuc_numb
1584
g_numb
g16
coordinate_GRCh38
133437902
gnomAD_AC
23
gnomAD_AN
1613272
gnomAD_AF
0.00001426
clinvar_id
5810
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
29, 188, 239, 292, 332

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
187 165 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
307 165 . 29 cTTP homozygous USA male 17 17 <10 20 no infection unknown