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NM_139027.6(ADAMTS13):c.2067C>T (p.Ala689=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 3, 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:
RCV004442392.1

Allele description [Variation Report for NM_139027.6(ADAMTS13):c.2067C>T (p.Ala689=)]

NM_139027.6(ADAMTS13):c.2067C>T (p.Ala689=)

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.2067C>T (p.Ala689=)
HGVS:
  • NC_000009.12:g.133442497C>T
  • NG_011934.2:g.33159C>T
  • NM_139025.5:c.2067C>T
  • NM_139026.6:c.1974C>T
  • NM_139027.6:c.2067C>TMANE SELECT
  • NP_620594.1:p.Ala689=
  • NP_620594.1:p.Ala689=
  • NP_620595.1:p.Ala658=
  • NP_620596.2:p.Ala689=
  • LRG_544t1:c.2067C>T
  • LRG_544:g.33159C>T
  • LRG_544p1:p.Ala689=
  • NC_000009.11:g.136307618C>T
  • NM_139025.3:c.2067C>T
  • NM_139025.4:c.2067C>T
Molecular consequence:
  • NM_139025.5:c.2067C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_139026.6:c.1974C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_139027.6:c.2067C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004926656Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 3, 2024) 		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 Ambry Genetics, SCV004926656.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024