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NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 30, 2021
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:
RCV001561563.2

Allele description [Variation Report for NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)]

NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)

Gene:
B3GAT3:beta-1,3-glucuronyltransferase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)
HGVS:
  • NC_000011.10:g.62616708A>T
  • NG_009845.1:g.8968A>T
  • NG_031863.1:g.10468T>A
  • NM_001288721.2:c.686T>A
  • NM_001288722.2:c.707T>A
  • NM_001288723.2:c.707T>A
  • NM_012200.4:c.707T>AMANE SELECT
  • NP_001275650.1:p.Val229Glu
  • NP_001275651.1:p.Val236Glu
  • NP_001275652.1:p.Val236Glu
  • NP_036332.2:p.Val236Glu
  • NC_000011.9:g.62384180A>T
  • NM_012200.3:c.707T>A
  • NR_109991.2:n.736T>A
Protein change:
V229E
Links:
dbSNP: rs1454428915
NCBI 1000 Genomes Browser:
rs1454428915
Molecular consequence:
  • NM_001288721.2:c.686T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288722.2:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288723.2:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012200.4:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_109991.2:n.736T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001784189GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 30, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001784189.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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

Last Updated: Sep 29, 2024