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NM_139027.6(ADAMTS13):c.1007C>G (p.Ser336Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2023
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:
RCV003481941.1

Allele description [Variation Report for NM_139027.6(ADAMTS13):c.1007C>G (p.Ser336Cys)]

NM_139027.6(ADAMTS13):c.1007C>G (p.Ser336Cys)

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.1007C>G (p.Ser336Cys)
Other names:
p.Ser336Cys
HGVS:
  • NC_000009.12:g.133432607C>G
  • NG_011934.2:g.23269C>G
  • NM_139025.5:c.1007C>G
  • NM_139026.6:c.914C>G
  • NM_139027.6:c.1007C>GMANE SELECT
  • NP_620594.1:p.Ser336Cys
  • NP_620594.1:p.Ser336Cys
  • NP_620595.1:p.Ser305Cys
  • NP_620596.2:p.Ser336Cys
  • LRG_544t1:c.1007C>G
  • LRG_544:g.23269C>G
  • LRG_544p1:p.Ser336Cys
  • NC_000009.11:g.136297728C>G
  • NM_139025.4:c.1007C>G
  • NR_024514.3:n.909C>G
Protein change:
S305C
Molecular consequence:
  • NM_139025.5:c.1007C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139026.6:c.914C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139027.6:c.1007C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024514.3:n.909C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004225139Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 10, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Crystal structure and substrate-induced activation of ADAMTS13.

Petri A, Kim HJ, Xu Y, de Groot R, Li C, Vandenbulcke A, Vanhoorelbeke K, Emsley J, Crawley JTB.

Nat Commun. 2019 Aug 22;10(1):3781. doi: 10.1038/s41467-019-11474-5.

PubMed [citation]
PMID:
31439947
PMCID:
PMC6706451

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 Mayo Clinic Laboratories, Mayo Clinic, SCV004225139.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PP4, PM1, PM2_supporting, PM3_supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024