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NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2018
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:
RCV000520235.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)]

NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)

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.1169A>T (p.Tyr390Phe)
HGVS:
  • NC_000014.9:g.75959257T>A
  • NG_011715.1:g.27493A>T
  • NM_001329939.2:c.1169A>T
  • NM_003239.5:c.1169A>TMANE SELECT
  • NP_001316868.1:p.Tyr390Phe
  • NP_003230.1:p.Tyr390Phe
  • LRG_399t1:c.1169A>T
  • LRG_399:g.27493A>T
  • NC_000014.8:g.76425600T>A
  • NM_003239.2:c.1169A>T
  • NM_003239.3:c.1169A>T
  • NM_003239.4:c.1169A>T
Protein change:
Y390F
Links:
dbSNP: rs996297395
NCBI 1000 Genomes Browser:
rs996297395
Molecular consequence:
  • NM_001329939.2:c.1169A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.1169A>T - 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
SCV000618561GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 24, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000618561.2

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

Description

A variant of uncertain significance has been identified in the TGFB3 gene. The Y390F variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is notobserved in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server). The Y390F variant is a non-conservative amino acid substitution, which islikely to impact secondary protein structure as these residues differ in polarity, charge, size and/orother properties. This substitution occurs at a position that is conserved across species, and in silicoanalysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, nomissense variants in nearby residues have been reported in the Human Gene Mutation Database inassociation with TGFB3-related disorders (Stenson et al., 2014). Thus, this variant lacks observationin a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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

Last Updated: Nov 3, 2024