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NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) AND Rienhoff syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 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:
RCV002518335.10

Allele description [Variation Report for NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)]

NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)

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.82A>C (p.Thr28Pro)
HGVS:
  • NC_000014.9:g.75980812T>G
  • NG_011715.1:g.5938A>C
  • NG_031957.1:g.60T>G
  • NM_001329938.2:c.82A>C
  • NM_001329939.2:c.82A>C
  • NM_003239.5:c.82A>CMANE SELECT
  • NP_001316867.1:p.Thr28Pro
  • NP_001316868.1:p.Thr28Pro
  • NP_003230.1:p.Thr28Pro
  • LRG_399t1:c.82A>C
  • LRG_399:g.5938A>C
  • NC_000014.8:g.76447155T>G
  • NM_003239.2:c.82A>C
Protein change:
T28P
Links:
dbSNP: rs564013964
NCBI 1000 Genomes Browser:
rs564013964
Molecular consequence:
  • NM_001329938.2:c.82A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329939.2:c.82A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.82A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rienhoff syndrome
Synonyms:
Loeys-Dietz syndrome 5
Identifiers:
MONDO: MONDO:0014262; MedGen: C3810012; OMIM: 615582

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000287913Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 16, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000287913.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 28 of the TGFB3 protein (p.Thr28Pro). This variant is present in population databases (rs564013964, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TGFB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 239523). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 3, 2024