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NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 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:
RCV003399043.1

Allele description [Variation Report for NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)]

NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)

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.1351G>A (p.Ala451Thr)
HGVS:
  • NC_000009.12:g.133436871G>A
  • NG_011934.2:g.27533G>A
  • NM_139025.5:c.1351G>A
  • NM_139026.6:c.1258G>A
  • NM_139027.6:c.1351G>AMANE SELECT
  • NP_620594.1:p.Ala451Thr
  • NP_620595.1:p.Ala420Thr
  • NP_620596.2:p.Ala451Thr
  • LRG_544t1:c.1351G>A
  • LRG_544:g.27533G>A
  • NC_000009.11:g.136301991G>A
  • NM_139025.4:c.1351G>A
Protein change:
A420T
Links:
dbSNP: rs375508823
NCBI 1000 Genomes Browser:
rs375508823
Molecular consequence:
  • NM_139025.5:c.1351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139026.6:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139027.6:c.1351G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121772Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 17, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004121772.1

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

Description

Variant summary: ADAMTS13 c.1351G>A (p.Ala451Thr) results in a non-conservative amino acid change located in the cysteine-rich domain 3 (IPR045371) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.9e-06 in 204006 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1351G>A in individuals affected with Thrombotic Thrombocytopenic Purpura and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024