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NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 2020
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:
RCV001764630.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)]

NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)

Gene:
TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)
HGVS:
  • NC_000014.9:g.75959275T>C
  • NG_011715.1:g.27475A>G
  • NM_001329939.2:c.1151A>G
  • NM_003239.5:c.1151A>GMANE SELECT
  • NP_001316868.1:p.Glu384Gly
  • NP_003230.1:p.Glu384Gly
  • LRG_399t1:c.1151A>G
  • LRG_399:g.27475A>G
  • NC_000014.8:g.76425618T>C
  • NM_003239.2:c.1151A>G
  • NM_003239.3:c.1151A>G
Protein change:
E384G
Links:
dbSNP: rs777902992
NCBI 1000 Genomes Browser:
rs777902992
Molecular consequence:
  • NM_001329939.2:c.1151A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.1151A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001990399GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 25, 2020) 		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, SCV001990399.2

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

Description

Not observed 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; A different missense variant at the same codon (E384K) has been reported in an individual with arrhythmogenic right ventricular cardiomyopathy, although specific clinical details and familial segregation data were not provided (Bao et al., 2013)

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

Last Updated: Nov 3, 2024