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NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) AND Arrhythmogenic right ventricular dysplasia 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 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:
RCV003985017.2

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]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 1
Synonyms:
Arrhythmogenic right ventricular dysplasia, familial 1
Identifiers:
MONDO: MONDO:0007152; MedGen: C1862511; Orphanet: 3403; OMIM: 107970

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004801296Clinical Genomics Laboratory, Stanford Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 29, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Genomics Laboratory, Stanford Medicine, SCV004801296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The p.Pro291Leu variant in the TGFB3 gene has not been previously reported in association with disease. This variant has been identified in 2/16,254 African/African American chromosomes (8/251,428 chromosomes overall) by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Although this variant has been seen in the general population, it has not been seen at a high enough frequency to rule out pathogenicity. The proline at position 291 is highly evolutionarily conserved in mammals; however, leucine is observed in one lower species (zebrafish). Computational tools do not predict that the p.Pro291Leu variant is deleterious; however, the accuracy of in silico algorithms is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Pro291Leu variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: None]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024