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NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 24, 2019
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:
RCV000482159.10

Allele description [Variation Report for NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)]

NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)

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.872C>T (p.Pro291Leu)
Other names:
p.Pro291Leu
HGVS:
  • NC_000014.9:g.75963370G>A
  • NG_011715.1:g.23380C>T
  • NM_001329938.2:c.872C>T
  • NM_001329939.2:c.872C>T
  • NM_003239.5:c.872C>TMANE SELECT
  • NP_001316867.1:p.Pro291Leu
  • NP_001316868.1:p.Pro291Leu
  • NP_003230.1:p.Pro291Leu
  • LRG_399t1:c.872C>T
  • LRG_399:g.23380C>T
  • NC_000014.8:g.76429713G>A
  • NM_003239.2:c.872C>T
  • NM_003239.3:c.872C>T
Protein change:
P291L
Links:
dbSNP: rs145121701
NCBI 1000 Genomes Browser:
rs145121701
Molecular consequence:
  • NM_001329938.2:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329939.2:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.872C>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
SCV000573474GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 24, 2019) 		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, SCV000573474.5

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance, but additional evidence is not available (ClinVar Variant ID# 410274; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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

Last Updated: Nov 24, 2024