NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser) AND Upshaw-Schulman syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004560401.1

Allele description [Variation Report for NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)]

NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)

Gene:

ADAMTS13:ADAM metallopeptidase with thrombospondin type 1 motif 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

Preferred name:

NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)

HGVS:

NC_000009.12:g.133459103G>A
NG_011934.2:g.49765G>A
NM_139025.5:c.4207G>A
NM_139026.6:c.3946G>A
NM_139027.6:c.4039G>AMANE SELECT
NP_620594.1:p.Gly1403Ser
NP_620594.1:p.Gly1403Ser
NP_620595.1:p.Gly1316Ser
NP_620596.2:p.Gly1347Ser
LRG_544t1:c.4207G>A
LRG_544:g.49765G>A
LRG_544p1:p.Gly1403Ser
NC_000009.11:g.136324225G>A
NM_139025.4:c.4207G>A
NR_024514.3:n.2691G>A

Protein change:

G1316S

Molecular consequence:

NM_139025.5:c.4207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139026.6:c.3946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139027.6:c.4039G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_024514.3:n.2691G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Upshaw-Schulman syndrome (TTP)
Synonyms:: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY; Congenital thrombotic thrombocytopenic purpura
Identifiers:: MONDO: MONDO:0010122; MedGen: C1268935; OMIM: 274150

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005047117	Clinical Genomics Laboratory, Washington University in St. Louis	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 26, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005047117

Clinical Genomics Laboratory, Washington University in St. Louis

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 26, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Clinical Genomics Laboratory, Washington University in St. Louis, SCV005047117.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The ADAMTS13 c.4039G>A (p.Gly1347Ser) variant, to our knowledge, has not been reported in association with renal disease in the medical literature. This variant is only observed on 1/152,194 alleles in the general population (gnomAD v4.0.0), indicating it is not a common variant. Computational predictors suggest that the variant does not impact ADAMTS13 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of the ADAMTS13 c.4039G>A (p.Gly1347Ser) variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine